ClinVar Miner

Submissions for variant NM_033337.3(CAV3):c.60G>A (p.Lys20=)

gnomAD frequency: 0.00001  dbSNP: rs972788554
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000981588 SCV001129563 likely benign Long QT syndrome 2023-10-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002354883 SCV002658101 likely benign Cardiovascular phenotype 2020-11-15 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.
Fulgent Genetics, Fulgent Genetics RCV002503131 SCV002807448 likely benign Elevated circulating creatine kinase concentration; Hypertrophic cardiomyopathy 1; Long QT syndrome 9; Rippling muscle disease 2; Distal myopathy, Tateyama type 2021-08-04 criteria provided, single submitter clinical testing

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