ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.3948C>T (p.Asn1316=) (rs150092451)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000284448 SCV000377850 likely benign Brugada syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000341571 SCV000377851 likely benign Timothy syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000428070 SCV000512453 benign not specified 2015-03-18 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.
Invitae RCV000474393 SCV000562913 benign Long QT syndrome 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621492 SCV000735771 likely benign Cardiovascular phenotype 2017-02-10 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign

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