ClinVar Miner

Submissions for variant NM_001406838.1(KCNQ1):c.478-12807del

dbSNP: rs1848316236
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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 RCV001089527 SCV001244880 likely pathogenic Long QT syndrome 1 2019-08-27 criteria provided, single submitter clinical testing

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