ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.2436C>T (p.Asp812=)

gnomAD frequency: 0.08744  dbSNP: rs215976
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000079283 SCV000111153 benign not specified 2013-01-04 criteria provided, single submitter clinical testing
GeneDx RCV000079283 SCV000167483 benign not specified 2011-07-10 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000247755 SCV000317516 benign Cardiovascular phenotype 2015-06-23 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance;Seen in trans with a mutation or in homozygous state in individual without severe disease for that gene
Ambry Genetics RCV000715437 SCV000846266 benign History of neurodevelopmental disorder 2015-06-23 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance,Seen in trans with a mutation or in homozygous state in individual without severe disease for that gene
Invitae RCV000860432 SCV001000486 benign Long QT syndrome 2024-02-01 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000079283 SCV001920115 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000079283 SCV001957190 benign not specified no assertion criteria provided clinical testing

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