ClinVar Miner

Submissions for variant NM_000335.4(SCN5A):c.567T>C (p.Leu189=) (rs876657581)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000638747 SCV000760293 likely benign Brugada syndrome 2018-01-09 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000223477 SCV000270832 likely benign not specified 2015-04-23 criteria provided, single submitter clinical testing p.Leu189Leu in exon 5 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.

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