ClinVar Miner

Submissions for variant NM_000335.4(SCN5A):c.4591G>A (p.Val1531Ile) (rs199473618)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000183081 SCV000235491 likely benign not specified 2017-11-03 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000536644 SCV000637158 likely benign not provided 2019-03-05 criteria provided, single submitter clinical testing
Mendelics RCV000987201 SCV001136450 likely benign Brugada syndrome 1 2019-05-28 criteria provided, single submitter clinical testing
Color RCV001178369 SCV001342799 likely benign Arrhythmia 2018-12-11 criteria provided, single submitter clinical testing
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000058693 SCV000090213 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;PMID:19841300). This is a literature report, and does not necessarily reflect the clinical interpretation of the Imperial College / Royal Brompton Cardiovascular Genetics laboratory.
CSER _CC_NCGL, University of Washington RCV000148850 SCV000190593 uncertain significance Long QT syndrome 2014-06-01 no assertion criteria provided research

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