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Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation.

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Title: Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation.
Authors: McCormick EM; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Lott MT; Center for Mitochondrial and Epigenomic Medicine, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Dulik MC; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Shen L; Center for Personalized Medicine, Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, California, USA., Attimonelli M; Department of Biosciences, Biotechnology, and Biopharmaceutics, University of Bari 'A. Moro', Bari, Italy., Vitale O; Department of Biosciences, Biotechnology, and Biopharmaceutics, University of Bari 'A. Moro', Bari, Italy., Karaa A; Genetics Unit, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA., Bai R; GeneDx, Gaithersburg, Maryland, USA., Pineda-Alvarez DE; Invitae, San Francisco, California, USA., Singh LN; Center for Mitochondrial and Epigenomic Medicine, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Stanley CM; Variantyx, Inc, Framingham, Massachusetts, USA.; QNA Diagnostics, Cambridge, Massachusetts, USA., Wong S; Invitae, San Francisco, California, USA., Bhardwaj A; CSIR-Institute of Microbial Technology, Chandigarh, India., Merkurjev D; Center for Personalized Medicine, Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, California, USA., Mao R; ARUP Institute for Clinical and Experimental Pathology, ARUP Laboratories, Salt Lake City, Utah, USA.; Department of Pathology, University of Utah, Salt Lake City, Utah, USA., Sondheimer N; Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada., Zhang S; Center for Mitochondrial and Epigenomic Medicine, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Procaccio V; Department of Biochemistry and Genetics, MitoVasc Institute, UMR CNRS 6015- INSERM U1083, CHU Angers, Angers, France., Wallace DC; Center for Mitochondrial and Epigenomic Medicine, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Gai X; Center for Personalized Medicine, Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, California, USA.; Keck School of Medicine, University of Southern California, Los Angeles, California, USA., Falk MJ; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Source: Human mutation [Hum Mutat] 2020 Dec; Vol. 41 (12), pp. 2028-2057. Date of Electronic Publication: 2020 Nov 10.
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, Non-P.H.S.
Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation.
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  Data: <searchLink fieldCode="AU" term="%22McCormick+EM%22">McCormick EM</searchLink>; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Lott+MT%22">Lott MT</searchLink>; Center for Mitochondrial and Epigenomic Medicine, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Dulik+MC%22">Dulik MC</searchLink>; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Shen+L%22">Shen L</searchLink>; Center for Personalized Medicine, Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, California, USA.<br /><searchLink fieldCode="AU" term="%22Attimonelli+M%22">Attimonelli M</searchLink>; Department of Biosciences, Biotechnology, and Biopharmaceutics, University of Bari 'A. Moro', Bari, Italy.<br /><searchLink fieldCode="AU" term="%22Vitale+O%22">Vitale O</searchLink>; Department of Biosciences, Biotechnology, and Biopharmaceutics, University of Bari 'A. Moro', Bari, Italy.<br /><searchLink fieldCode="AU" term="%22Karaa+A%22">Karaa A</searchLink>; Genetics Unit, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA.<br /><searchLink fieldCode="AU" term="%22Bai+R%22">Bai R</searchLink>; GeneDx, Gaithersburg, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Pineda-Alvarez+DE%22">Pineda-Alvarez DE</searchLink>; Invitae, San Francisco, California, USA.<br /><searchLink fieldCode="AU" term="%22Singh+LN%22">Singh LN</searchLink>; Center for Mitochondrial and Epigenomic Medicine, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Stanley+CM%22">Stanley CM</searchLink>; Variantyx, Inc, Framingham, Massachusetts, USA.; QNA Diagnostics, Cambridge, Massachusetts, USA.<br /><searchLink fieldCode="AU" term="%22Wong+S%22">Wong S</searchLink>; Invitae, San Francisco, California, USA.<br /><searchLink fieldCode="AU" term="%22Bhardwaj+A%22">Bhardwaj A</searchLink>; CSIR-Institute of Microbial Technology, Chandigarh, India.<br /><searchLink fieldCode="AU" term="%22Merkurjev+D%22">Merkurjev D</searchLink>; Center for Personalized Medicine, Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, California, USA.<br /><searchLink fieldCode="AU" term="%22Mao+R%22">Mao R</searchLink>; ARUP Institute for Clinical and Experimental Pathology, ARUP Laboratories, Salt Lake City, Utah, USA.; Department of Pathology, University of Utah, Salt Lake City, Utah, USA.<br /><searchLink fieldCode="AU" term="%22Sondheimer+N%22">Sondheimer N</searchLink>; Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Zhang+S%22">Zhang S</searchLink>; Center for Mitochondrial and Epigenomic Medicine, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Procaccio+V%22">Procaccio V</searchLink>; Department of Biochemistry and Genetics, MitoVasc Institute, UMR CNRS 6015- INSERM U1083, CHU Angers, Angers, France.<br /><searchLink fieldCode="AU" term="%22Wallace+DC%22">Wallace DC</searchLink>; Center for Mitochondrial and Epigenomic Medicine, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Gai+X%22">Gai X</searchLink>; Center for Personalized Medicine, Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, California, USA.; Keck School of Medicine, University of Southern California, Los Angeles, California, USA.<br /><searchLink fieldCode="AU" term="%22Falk+MJ%22">Falk MJ</searchLink>; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
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  Data: <searchLink fieldCode="JN" term="%229215429%22">Human mutation</searchLink> [Hum Mutat] 2020 Dec; Vol. 41 (12), pp. 2028-2057. <i>Date of Electronic Publication: </i>2020 Nov 10.
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