ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.5772G>C (p.Leu1924=)

gnomAD frequency: 0.00001  dbSNP: rs757373786
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000178564 SCV000230668 uncertain significance not provided 2014-08-20 criteria provided, single submitter clinical testing
Invitae RCV001084032 SCV001000826 likely benign Long QT syndrome 2023-09-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002354460 SCV002650764 likely benign Cardiovascular phenotype 2022-06-02 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.
CeGaT Center for Human Genetics Tuebingen RCV000178564 SCV004132358 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing CACNA1C: BP4, BP7

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