ClinVar Miner

Submissions for variant NM_181798.1(KCNQ1):c.1598C>A (p.Pro533His) (rs886048165)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000402579 SCV000370401 uncertain significance Long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000303797 SCV000370402 uncertain significance Jervell and Lange-Nielsen syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000339887 SCV000370403 uncertain significance Congenital long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000394371 SCV000370404 uncertain significance short QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000304914 SCV000370405 uncertain significance Familial atrial fibrillation 2016-06-14 criteria provided, single submitter clinical testing

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