ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.2385C>T (p.His795=)

gnomAD frequency: 0.00015  dbSNP: rs143016981
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000126473 SCV000169980 benign not specified 2014-06-03 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 RCV000557165 SCV000634068 likely benign Early infantile epileptic encephalopathy with suppression bursts 2024-01-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002453452 SCV002738391 likely benign Inborn genetic diseases 2017-08-14 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.
CeGaT Center for Human Genetics Tuebingen RCV003430694 SCV004150904 likely benign not provided 2022-09-01 criteria provided, single submitter clinical testing KCNQ2: BP4, BP7

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