ClinVar Miner

Submissions for variant NM_000238.4(KCNH2):c.92T>A (p.Ile31Asn)

dbSNP: rs199472833
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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 RCV000624163 SCV000740305 likely pathogenic Long QT syndrome 2 2018-02-14 criteria provided, single submitter clinical testing

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