ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.795G>A (p.Ala265=)

gnomAD frequency: 0.00037  dbSNP: rs148654588
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000117339 SCV000151521 uncertain significance not provided 2013-04-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001088466 SCV000555717 likely benign Early infantile epileptic encephalopathy with suppression bursts 2024-01-27 criteria provided, single submitter clinical testing
GeneDx RCV000117339 SCV001900723 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002415601 SCV002676462 likely benign Inborn genetic diseases 2018-01-26 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 RCV004542842 SCV004782738 likely benign KCNQ2-related disorder 2022-05-20 no assertion criteria provided 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).

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