ClinVar Miner

Submissions for variant NM_000218.3(KCNQ1):c.1393+21538C>T

gnomAD frequency: 0.00923  dbSNP: rs72850203
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000365687 SCV000370306 likely benign Familial atrial fibrillation 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000269668 SCV000370307 likely benign Congenital long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000327014 SCV000370308 likely benign Jervell and Lange-Nielsen syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000379257 SCV000370309 likely benign Short QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000287215 SCV000370310 likely benign Long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004705218 SCV005223180 likely benign not provided criteria provided, single submitter not provided

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