ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.834T>C (p.Leu278=)

gnomAD frequency: 0.00020  dbSNP: rs769657433
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000437132 SCV000513382 benign not specified 2015-07-09 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000647895 SCV000769701 benign Benign neonatal seizures 2023-12-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002314147 SCV000848107 likely benign Inborn genetic diseases 2016-10-27 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.
PreventionGenetics, part of Exact Sciences RCV003922712 SCV004744539 likely benign KCNQ3-related disorder 2019-05-17 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000437132 SCV001932331 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001726160 SCV001967072 likely benign not provided no assertion criteria provided clinical testing

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