ClinVar Miner

Submissions for variant NM_033337.2(CAV3):c.216C>G (p.Cys72Trp) (rs116840776)

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Total submissions: 15
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000171752 SCV000050766 likely benign Limb-girdle muscular dystrophy 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000150236 SCV000197226 benign not specified 2018-04-09 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000150236 SCV000227543 benign not specified 2014-07-07 criteria provided, single submitter clinical testing
Invitae RCV001084478 SCV000261574 likely benign Long QT syndrome 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000249612 SCV000317954 likely benign Cardiovascular phenotype 2018-09-07 criteria provided, single submitter clinical testing No disease association in small case-control study;Other strong data supporting benign classification
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000150236 SCV000740557 likely benign not specified 2016-12-07 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000150236 SCV000885143 likely benign not specified 2018-07-30 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769171 SCV000900546 benign Cardiomyopathy 2018-08-02 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000769171 SCV000995703 likely benign Cardiomyopathy 2019-03-18 criteria provided, single submitter clinical testing
Mendelics RCV000987087 SCV001136285 uncertain significance Long QT syndrome 1 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000024381 SCV001153761 uncertain significance not provided 2018-09-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001144018 SCV001304592 uncertain significance Caveolinopathy 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
OMIM RCV000008769 SCV000028978 pathogenic Rippling muscle disease 2 2005-01-01 no assertion criteria provided literature only
Leiden Muscular Dystrophy (CAV3) RCV000024381 SCV000045674 not provided not provided 2012-04-15 no assertion provided curation
Division of Human Genetics,Children's Hospital of Philadelphia RCV000477819 SCV000536872 uncertain significance Elevated serum creatine phosphokinase; Familial hypertrophic cardiomyopathy 1; Long QT syndrome 9; Rippling muscle disease 2; Distal myopathy, Tateyama type 2016-03-16 no assertion criteria provided research

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