ClinVar Miner

Submissions for variant NM_000218.3(KCNQ1):c.1514+4974G>A

gnomAD frequency: 0.00530  dbSNP: rs188083723
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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 RCV000327250 SCV000370351 likely benign Familial atrial fibrillation 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000384184 SCV000370352 likely benign Congenital long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000292069 SCV000370353 likely benign Long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000346907 SCV000370354 likely benign Short QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000378240 SCV000370355 likely benign Jervell and Lange-Nielsen syndrome 2016-06-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002262956 SCV002544517 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing KCNQ1: BS2

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