ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.3567C>T (p.Cys1189=) (rs202058956)

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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 RCV000307281 SCV000377830 likely benign Timothy syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000345457 SCV000377831 likely benign Brugada syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000425928 SCV000512450 likely benign not specified 2016-01-05 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 RCV000457023 SCV000562911 likely benign Long QT syndrome 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717424 SCV000848274 likely benign History of neurodevelopmental disorder 2017-05-15 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign

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