ClinVar Miner

Submissions for variant NM_032588.3(TRIM63):c.739C>T (p.Gln247Ter) (rs148395034)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000208240 SCV000264267 uncertain significance Primary familial hypertrophic cardiomyopathy 2015-03-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV000623023 SCV000742685 pathogenic Inborn genetic diseases 2019-02-15 criteria provided, single submitter clinical testing
Invitae RCV000873634 SCV001015664 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Institute of Molecular Biology and Genetics, Federal Almazov North-West Medical Research Centre RCV000850351 SCV001749989 uncertain significance Hypertrophic cardiomyopathy 2021-07-07 criteria provided, single submitter clinical testing
Institute of Human Genetics,University of Wuerzburg RCV000850351 SCV000992527 likely pathogenic Hypertrophic cardiomyopathy no assertion criteria provided clinical testing

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