ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.116C>T (p.Ala39Val)

dbSNP: rs121912776
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000019202 SCV000039490 pathogenic Brugada syndrome 3 2007-01-30 no assertion criteria provided literature only
Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust RCV000058283 SCV000089803 not provided Brugada syndrome no assertion provided literature only This variant has been reported as associated with Brugada syndrome in the following publications (PMID:17224476;PMID:20817017;PMID:22385640). This is a literature report, and does not necessarily reflect the clinical interpretation of the Imperial College / Royal Brompton Cardiovascular Genetics laboratory.
GeneReviews RCV000019202 SCV000188928 not provided Brugada syndrome 3 no assertion provided literature only

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