ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.1928C>T (p.Ser643Phe)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics Laboratory, Skane University Hospital Lund RCV004697202 SCV005197357 likely pathogenic not provided 2022-05-27 criteria provided, single submitter clinical testing
OMIM RCV002286523 SCV002576504 pathogenic Timothy syndrome 2022-09-29 no assertion criteria provided literature only

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