ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.225A>C (p.Thr75=) (rs756361032)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000602968 SCV000731144 likely benign not specified 2017-01-18 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 RCV000867240 SCV001008443 likely benign Long QT syndrome 2019-12-31 criteria provided, single submitter clinical testing

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