ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.5217C>T (p.Asp1739=)

gnomAD frequency: 0.00002  dbSNP: rs864622139
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000204148 SCV000259426 likely benign Long QT syndrome 2023-11-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002345729 SCV002646680 likely benign Cardiovascular phenotype 2022-04-23 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 RCV003390950 SCV004132351 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing CACNA1C: BP4, BP7

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