ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.*2288G>A

gnomAD frequency: 0.00001  dbSNP: rs554155021
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000346466 SCV000377997 likely benign Timothy syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000396861 SCV000377998 likely benign Brugada syndrome 2016-06-14 criteria provided, single submitter clinical testing

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