ClinVar Miner

Submissions for variant NM_000335.4(SCN5A):c.80G>A (p.Arg27His) (rs199473045)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000713149 SCV000843728 likely benign not provided 2017-11-14 criteria provided, single submitter clinical testing
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000058846 SCV000090366 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:11901046;PMID:19716085). This is a literature report, and does not necessarily reflect the clinical interpretation of the Imperial College / Royal Brompton Cardiovascular Genetics laboratory.
Forensic Genetics Laboratory,Harris County Institute of Forensic Sciences RCV000234990 SCV000263114 pathogenic Death in infancy 2015-03-27 no assertion criteria provided clinical testing
GeneDx RCV000182919 SCV000235314 likely benign not specified 2017-04-27 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 RCV000233313 SCV000291835 likely benign Brugada syndrome 2018-01-08 criteria provided, single submitter clinical testing
Stanford Center for Inherited Cardiovascular Disease,Stanford University RCV000713149 SCV000280484 likely benign not provided 2016-12-29 no assertion criteria provided provider interpretation update: reclassified variant to likely benign because of presence in 0.2% of alleles from Latinos in ExAC.

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