ClinVar Miner

Submissions for variant NM_033337.3(CAV3):c.132G>A (p.Val44=)

dbSNP: rs372754279
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002160341 SCV002420458 likely benign Long QT syndrome 2022-06-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002382380 SCV002692286 likely benign Cardiovascular phenotype 2020-05-28 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.

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