ClinVar Miner

Submissions for variant NM_000218.3(KCNQ1):c.387-17G>A

gnomAD frequency: 0.00702  dbSNP: rs28730661
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000621 SCV001157619 benign not specified 2019-03-13 criteria provided, single submitter clinical testing
GeneDx RCV001615107 SCV001832844 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Invitae RCV002068755 SCV002331512 benign Long QT syndrome 2024-01-30 criteria provided, single submitter clinical testing

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