ClinVar Miner

Variants in gene TAFAZZIN

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If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
59 59 186 188 18 457

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
3-Methylglutaconic aciduria type 2 47 49 160 166 10 405
not provided 17 8 28 25 10 82
Cardiovascular phenotype 2 0 28 34 2 66
not specified 1 0 7 14 8 29
Primary dilated cardiomyopathy 1 1 11 6 1 20
Endocardial fibroelastosis 0 0 9 2 7 18
Left ventricular noncompaction cardiomyopathy 0 1 3 5 1 10
TAFAZZIN-related disorder 3 1 1 5 0 10
Cardiomyopathy 1 1 2 2 0 6
3-Methylglutaconic aciduria type 2; Primary dilated cardiomyopathy 1 2 0 0 0 3
Caused by mutation in the tafazzin gene 0 0 1 0 0 1
Dilated cardiomyopathy 1A 0 0 1 0 0 1
Left ventricular noncompaction 0 0 1 0 0 1
Primary familial dilated cardiomyopathy 0 0 1 0 0 1
Primary familial hypertrophic cardiomyopathy 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 45
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 23 10 129 161 7 330
GeneDx 12 5 22 20 11 70
Ambry Genetics 2 0 28 34 2 66
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 9 26 17 0 0 52
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 4 7 8 2 3 24
Illumina Laboratory Services, Illumina 0 0 11 7 7 18
CeGaT Center for Human Genetics Tuebingen 4 2 0 7 0 13
OMIM 12 0 0 0 0 12
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 2 0 4 2 11
PreventionGenetics, part of Exact Sciences 2 1 1 5 0 9
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 2 0 0 4 3 9
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 2 0 1 4 2 9
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 1 6 1 8
Clinical Genetics, Academic Medical Center 0 0 0 0 6 6
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 6 0 6
Breakthrough Genomics, Breakthrough Genomics 0 0 0 3 3 6
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 1 0 2 2 0 5
Mayo Clinic Laboratories, Mayo Clinic 2 0 3 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 1 2 0 0 5
Revvity Omics, Revvity 1 0 3 0 0 4
Baylor Genetics 0 0 2 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 0 0 1 2
Eurofins Ntd Llc (ga) 0 0 1 0 1 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 2 0 0 0 2
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 0 2 0 0 2
Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur 0 2 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 0 2 0 0 2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 1 0 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 0 0 1
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 1
Mendelics 0 0 0 0 1 1
Blueprint Genetics 0 0 1 0 0 1
Stanford Center for Inherited Cardiovascular Disease, Stanford University 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 0 1 1
Institute Of Molecular Biology And Genetics, Federal Almazov National Medical Research Centre 0 0 1 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 1
Department of Immunology, University Hospital Southampton NHSFT 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 1
Klaassen Lab, Charite University Medicine Berlin 0 1 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 1 0 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 1 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 1
KardioGenetik, Herz- und Diabeteszentrum NRW 0 1 0 0 0 1

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