ClinVar Miner

Submissions for variant NM_000218.3(KCNQ1):c.1394-18C>G

gnomAD frequency: 0.00001  dbSNP: rs543054197
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002098363 SCV002399128 benign Long QT syndrome 2024-01-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003395385 SCV004133859 benign not provided 2022-07-01 criteria provided, single submitter clinical testing KCNQ1OT1: BS1, BS2

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