ClinVar Miner

Submissions for variant NM_033337.3(CAV3):c.30G>A (p.Glu10=)

gnomAD frequency: 0.00002  dbSNP: rs587780883
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000124130 SCV000167543 benign not specified 2014-01-15 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001486078 SCV001690528 likely benign Long QT syndrome 2022-11-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002321609 SCV002608228 likely benign Cardiovascular phenotype 2022-01-27 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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