ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.4460C>A (p.Thr1487Lys)

dbSNP: rs199473259
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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 RCV000790457 SCV000929784 likely pathogenic Long QT syndrome 3 2019-01-23 criteria provided, single submitter clinical testing

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