ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.846C>T (p.Tyr282=) (rs200847105)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000124069 SCV000167478 likely benign not specified 2017-12-27 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.
Illumina Clinical Services Laboratory,Illumina RCV000310705 SCV000377770 likely benign Timothy syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000365427 SCV000377771 likely benign Brugada syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000460955 SCV000562914 likely benign Long QT syndrome 2019-12-31 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000124069 SCV001442775 benign not specified 2020-10-31 criteria provided, single submitter clinical testing

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