ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.5884C>T (p.Arg1962Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV003387659 SCV004099188 pathogenic Timothy syndrome 2023-09-28 criteria provided, single submitter clinical testing PVS1, PS2, PM2

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