ClinVar Miner

Submissions for variant NM_000335.4(SCN5A):c.694G>A (p.Val232Ile) (rs45471994)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000246365 SCV000320149 uncertain significance Cardiovascular phenotype 2015-08-18 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
CSER_CC_NCGL; University of Washington Medical Center RCV000148856 SCV000190600 uncertain significance Brugada syndrome, lidocaine-induced 2014-06-01 no assertion criteria provided research
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000058840 SCV000090360 not provided Brugada syndrome no assertion provided literature only This variant has been reported as associated with Brugada syndrome in the following publications (PMID:18599870;PMID:20129283). This is a literature report, and does not necessarily reflect the clinical interpretation of the Imperial College / Royal Brompton Cardiovascular Genetics laboratory.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724673 SCV000231827 uncertain significance not provided 2015-03-20 criteria provided, single submitter clinical testing
GeneDx RCV000212989 SCV000235340 likely benign not specified 2017-11-21 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 RCV000058840 SCV000291832 likely benign Brugada syndrome 2017-12-04 criteria provided, single submitter clinical testing

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