ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.6213A>T (p.Ile2071=)

gnomAD frequency: 0.00007  dbSNP: rs778147251
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000248434 SCV000318624 likely benign Cardiovascular phenotype 2013-05-24 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001523231 SCV001732905 benign Long QT syndrome 2023-07-12 criteria provided, single submitter clinical testing

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