ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.3678C>T (p.Phe1226=)

dbSNP: rs775309900
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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 RCV001520489 SCV001729598 benign Long QT syndrome 2023-04-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002458501 SCV002615867 likely benign Cardiovascular phenotype 2018-05-29 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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