ClinVar Miner

Submissions for variant NM_000219.5(KCNE1):c.-577C>T

gnomAD frequency: 0.23004  dbSNP: rs11702354
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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 RCV000351908 SCV000435851 benign Jervell and Lange-Nielsen syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000399703 SCV000435852 benign Congenital long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000312069 SCV000435853 benign Long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004717462 SCV005310026 benign not provided criteria provided, single submitter not provided

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