ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.694G>C (p.Asp232His)

dbSNP: rs376872233
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001332568 SCV001524938 uncertain significance Brugada syndrome 3 2019-03-01 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Daryl Scott Lab, Baylor College of Medicine RCV003985493 SCV002515301 uncertain significance CACNA1C-related disorder 2022-02-01 criteria provided, single submitter clinical testing

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