ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.2213A>C (p.His738Pro)

dbSNP: rs1135401948
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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 RCV000496753 SCV000588146 uncertain significance Brugada syndrome 1 2017-03-06 criteria provided, single submitter clinical testing

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