ClinVar Miner

Submissions for variant NM_033337.3(CAV3):c.201C>A (p.Val67=)

gnomAD frequency: 0.00004  dbSNP: rs201593267
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000156261 SCV000167538 benign not specified 2013-05-16 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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000156261 SCV000205977 likely benign not specified 2013-12-03 criteria provided, single submitter clinical testing Val67Val in exon 2 of CAV3: This variant is not expected to have clinical signif icance because it does not alter an amino acid residue and is not located within the splice consensus sequence. Val67Val in exon 2 of CAV3 (allele frequency = n/a)
Preventiongenetics, part of Exact Sciences RCV000156261 SCV000315207 likely benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000251007 SCV000319174 likely benign Cardiovascular phenotype 2020-10-06 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Eurofins Ntd Llc (ga) RCV000724964 SCV000332770 uncertain significance not provided 2018-01-19 criteria provided, single submitter clinical testing
Invitae RCV001079520 SCV000627771 likely benign Long QT syndrome 2024-01-09 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000724964 SCV001153760 likely benign not provided 2017-04-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001150161 SCV001311174 benign Caveolinopathy 2018-03-26 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000156261 SCV003928639 benign not specified 2023-04-04 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000724964 SCV001931325 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000724964 SCV001955965 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000724964 SCV001973281 likely benign not provided no assertion criteria provided clinical testing

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