ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.1715C>T (p.Ala572Val) (rs36210423)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000455370 SCV000540278 uncertain significance not specified 2016-03-31 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Reported by 1 paper; ExAC: 0.2% (19/9772) African
Invitae RCV000911061 SCV001056114 likely benign Brugada syndrome 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000987223 SCV001136472 uncertain significance Brugada syndrome 1 2019-05-28 criteria provided, single submitter clinical testing
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000058448 SCV000089968 not provided Congenital long QT syndrome no assertion provided literature only This variant has been reported as associated with Long QT syndrome in the following publications (PMID:19716085). This is a literature report, and does not necessarily reflect the clinical interpretation of the Imperial College / Royal Brompton Cardiovascular Genetics laboratory.

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