ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.4468C>T (p.Gln1490Ter)

dbSNP: rs1559727990
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV000678926 SCV000805134 pathogenic Brugada syndrome 1 2018-01-04 criteria provided, single submitter clinical testing

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