ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.1726G>A (p.Glu576Lys)

gnomAD frequency: 0.00048  dbSNP: rs147306623
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724878 SCV000226671 uncertain significance not provided 2017-03-14 criteria provided, single submitter clinical testing
GeneDx RCV000724878 SCV000523050 benign not provided 2020-09-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002312712 SCV000846788 likely benign Inborn genetic diseases 2018-04-11 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.
Invitae RCV001081967 SCV001003603 likely benign Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 2024-01-22 criteria provided, single submitter clinical testing
Revvity Omics, Revvity Omics RCV000724878 SCV003812033 uncertain significance not provided 2021-05-19 criteria provided, single submitter clinical testing

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