ClinVar Miner

Submissions for variant NM_000219.6(KCNE1):c.*1226_*1229del

gnomAD frequency: 0.00693  dbSNP: rs551512090
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000323521 SCV000435716 likely benign Jervell and Lange-Nielsen syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000380385 SCV000435717 likely benign Long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000260169 SCV000435718 likely benign Congenital long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV002244809 SCV002512788 likely benign not provided 2021-10-26 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.

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