ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.1479G>A (p.Arg493=) (rs138870926)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000154844 SCV000171557 benign not specified 2013-03-25 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.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000154844 SCV000204526 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing Arg493Arg in exon 11 of SCN5A: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 0.2% (8/3294) of Af rican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs138870926).
Invitae RCV001087808 SCV000637083 benign Brugada syndrome 2020-11-30 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000533077 SCV001145500 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
Color Health, Inc RCV001186669 SCV001353208 benign Arrhythmia 2019-03-30 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001285131 SCV001471495 likely benign none provided 2020-06-23 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000154844 SCV001478769 likely benign not specified 2021-01-07 criteria provided, single submitter clinical testing

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