ClinVar Miner

Submissions for variant NM_033337.2(CAV3):c.166G>A (p.Gly56Ser) (rs72546667)

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Total submissions: 15
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000119393 SCV000602912 benign not provided 2017-08-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV000249765 SCV000318378 benign Cardiovascular phenotype 2015-07-16 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000576778 SCV000677234 benign Limb-girdle muscular dystrophy, type 1C; Distal myopathy, Tateyama type 2017-04-28 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000119393 SCV000841367 benign not provided 2017-04-28 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000171805 SCV000050817 benign Limb-girdle muscular dystrophy 2013-06-24 criteria provided, single submitter research
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000119393 SCV000511778 benign not provided 2016-09-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000039799 SCV000114281 benign not specified 2013-03-01 criteria provided, single submitter clinical testing
GeneDx RCV000039799 SCV000167537 benign not specified 2011-07-11 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago RCV000039799 SCV000150542 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Illumina Clinical Services Laboratory,Illumina RCV000362621 SCV000446411 likely benign Limb-Girdle Muscular Dystrophy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000466159 SCV000560127 benign Long QT syndrome 2017-08-08 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039799 SCV000063488 benign not specified 2012-05-10 criteria provided, single submitter clinical testing Gly56Ser in exon 2 of CAV3: This variant is not expected to have clinical signif icance because it has been identified in 10.9% (407/3738) of African American ch romosomes from a broad population by the NHLBI Exome Sequencing Project (http:// evs.gs.washington.edu/EVS/; dbSNP rs72546667)
Leiden Muscular Dystrophy (CAV3) RCV000119393 SCV000154300 not provided not provided no assertion provided not provided
OMIM RCV000008768 SCV000028977 uncertain significance Limb-girdle muscular dystrophy, type 1C 2005-01-01 no assertion criteria provided literature only
PreventionGenetics RCV000039799 SCV000315205 benign not specified criteria provided, single submitter clinical testing

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