ClinVar Miner

Submissions for variant NM_000219.6(KCNE1):c.*946del

dbSNP: rs142762112
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000354103 SCV000435734 likely benign Jervell and Lange-Nielsen syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000261595 SCV000435735 likely benign Long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000319572 SCV000435736 likely benign Congenital long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing

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