ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.5139C>T (p.Asp1713=)

gnomAD frequency: 0.00556  dbSNP: rs115216455
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000079295 SCV000111165 benign not specified 2013-07-25 criteria provided, single submitter clinical testing
Invitae RCV000468235 SCV000562875 benign Long QT syndrome 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000620146 SCV000735693 benign Cardiovascular phenotype 2015-11-17 criteria provided, single submitter clinical testing This alteration is classified as 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.
GeneDx RCV001675603 SCV001893277 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001675603 SCV004563991 likely benign not provided 2023-11-29 criteria provided, single submitter clinical testing

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