ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.5292C>T (p.Asn1764=) (rs72552065)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000152906 SCV000167502 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000152906 SCV000202333 benign not specified 2013-12-16 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000152906 SCV000305453 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000243277 SCV000317535 benign Cardiovascular phenotype 2015-07-17 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
Invitae RCV000470155 SCV000562930 benign Long QT syndrome 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715332 SCV000846161 benign History of neurodevelopmental disorder 2015-07-17 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

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