ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.1391T>C (p.Val464Ala)

gnomAD frequency: 0.00018  dbSNP: rs143664009
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001705017 SCV000241559 likely benign not provided 2021-01-12 criteria provided, single submitter clinical testing
Invitae RCV000476683 SCV000543212 likely benign Benign neonatal seizures 2024-01-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001705017 SCV004163238 likely benign not provided 2022-08-01 criteria provided, single submitter clinical testing KCNQ3: BS1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001252270 SCV001428022 likely benign Intellectual disability 2019-01-01 no assertion criteria provided clinical testing

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