ClinVar Miner

Submissions for variant NM_033337.3(CAV3):c.39C>T (p.Ile13=)

gnomAD frequency: 0.00006  dbSNP: rs200562715
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000155783 SCV000205494 likely benign not specified 2013-10-14 criteria provided, single submitter clinical testing Ile13Ile in exon 1 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. It has been identified in 1.0% (2/200) of southe rn Han Chinese chromosomes by the 1000 Genomes Project (dbSNP rs200562715). Ile 13Ile in exon 1 of CAV3 (rs200562715; allele frequency = 1.0%, 2/200)
Labcorp Genetics (formerly Invitae), Labcorp RCV001087560 SCV000291179 likely benign Long QT syndrome 2025-01-06 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000155783 SCV000342556 likely benign not specified 2016-06-03 criteria provided, single submitter clinical testing
GeneDx RCV000827127 SCV000968749 benign not provided 2021-01-28 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 33297573)
Ambry Genetics RCV002354375 SCV002619582 likely benign Cardiovascular phenotype 2022-03-03 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000155783 SCV004223396 benign not specified 2023-11-06 criteria provided, single submitter clinical testing

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