ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.2358G>A (p.Thr786=)

gnomAD frequency: 0.00001  dbSNP: rs559610397
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175250 SCV000226700 uncertain significance not provided 2014-07-04 criteria provided, single submitter clinical testing
Invitae RCV001495685 SCV001700370 likely benign Early infantile epileptic encephalopathy with suppression bursts 2023-05-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002444700 SCV002733653 likely benign Inborn genetic diseases 2018-04-14 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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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