ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.5148C>T (p.Ser1716=)

gnomAD frequency: 0.00002  dbSNP: rs371262001
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000618475 SCV000737636 likely benign Cardiovascular phenotype 2016-07-08 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000631849 SCV000752946 likely benign Long QT syndrome 2023-12-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003392454 SCV004132348 likely benign not provided 2022-04-01 criteria provided, single submitter clinical testing CACNA1C: BP4

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