ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.1851C>T (p.Ser617=)

dbSNP: rs371654949
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000614082 SCV000726258 likely benign not specified 2018-01-08 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 RCV001493947 SCV001698593 likely benign Long QT syndrome 2020-02-27 criteria provided, single submitter clinical testing

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