ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.1656C>T (p.Ala552=)

gnomAD frequency: 0.00006  dbSNP: rs199722269
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000315403 SCV000471917 likely benign Benign Neonatal Epilepsy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000351439 SCV000471918 likely benign Benign neonatal seizures 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000351439 SCV001640492 likely benign Benign neonatal seizures 2024-11-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002402076 SCV002704723 likely benign Inborn genetic diseases 2019-12-30 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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