ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.3904C>A (p.Arg1302=)

dbSNP: rs200334972
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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, Mass General Brigham Personalized Medicine RCV000036861 SCV000060516 likely benign not specified 2012-09-05 criteria provided, single submitter clinical testing Arg1303Arg in exon 22 of SCN5A: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. Arg1303Arg in exon 22 of SCN5A (allele fre quency = n/a)
CeGaT Center for Human Genetics Tuebingen RCV000638799 SCV001153864 uncertain significance not provided 2018-10-01 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001841579 SCV001360413 likely benign Cardiac arrhythmia 2020-01-10 criteria provided, single submitter clinical testing
Invitae RCV001466177 SCV001670177 likely benign Brugada syndrome 2020-07-29 criteria provided, single submitter clinical testing

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