ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.2436C>T (p.Asp812=) (rs215976)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 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 2019-12-31 criteria provided, single submitter clinical testing

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