ClinVar Miner

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

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000024381 SCV000885143 likely benign not provided 2017-09-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV000249612 SCV000317954 likely benign Cardiovascular phenotype 2017-09-18 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: No disease association in small case-control study,Other strong data supporting benign classification
Biesecker Lab/Human Development Section,National Institutes of Health RCV000171752 SCV000050766 likely benign Limb-girdle muscular dystrophy 2013-06-24 criteria provided, single submitter research
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769171 SCV000900546 likely benign Cardiomyopathy 2017-08-14 criteria provided, single submitter clinical testing
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; Limb-girdle muscular dystrophy, type 1C; Rippling muscle disease; Distal myopathy, Tateyama type 2016-03-16 no assertion criteria provided research
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000150236 SCV000227543 benign not specified 2014-07-07 criteria provided, single submitter clinical testing
Invitae RCV000205593 SCV000261574 likely benign Long QT syndrome 2018-01-06 criteria provided, single submitter clinical testing
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
Leiden Muscular Dystrophy (CAV3) RCV000024381 SCV000045674 not provided not provided 2012-04-15 no assertion provided curation
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
OMIM RCV000008769 SCV000028978 pathogenic Rippling muscle disease 2 2005-01-01 no assertion criteria provided literature only

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