ClinVar Miner

Submissions for variant NM_000335.4(SCN5A):c.103G>A (p.Gly35Ser) (rs199473552)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000058384 SCV000264199 uncertain significance Brugada syndrome 2015-10-07 criteria provided, single submitter clinical testing
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000058384 SCV000089904 not provided Brugada syndrome no assertion provided literature only This variant has been reported as associated with Brugada syndrome in the following publications (PMID:11960580;PMID:18752142). This is a literature report, and does not necessarily reflect the clinical interpretation of the Imperial College / Royal Brompton Cardiovascular Genetics laboratory.
Invitae RCV000058384 SCV000637070 likely benign Brugada syndrome 2018-01-08 criteria provided, single submitter clinical testing

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