ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.300G>A (p.Pro100=)

gnomAD frequency: 0.00004  dbSNP: rs764323907
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000869918 SCV001011380 likely benign Long QT syndrome 2023-02-26 criteria provided, single submitter clinical testing
GeneDx RCV001683239 SCV001899583 likely benign not provided 2019-06-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV004021538 SCV005036718 likely benign Cardiovascular phenotype 2023-11-02 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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