ClinVar Miner

Submissions for variant NM_000218.3(KCNQ1):c.1032+1_1129-1del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute RCV001254743 SCV001430830 likely pathogenic Long QT syndrome 2019-09-25 no assertion criteria provided research This variant has been identified in Long QT proband as part of our research program and was found to segregate to an affected sibling. For further information please feel free to contact us.

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