ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.3558C>T (p.Pro1186=)

dbSNP: rs148525032
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001698014 SCV000724699 likely benign not provided 2019-03-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002317361 SCV000851136 likely benign Inborn genetic diseases 2016-08-02 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000861711 SCV001002101 likely benign Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 2024-12-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270812 SCV002553720 likely benign Developmental and epileptic encephalopathy, 14 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270813 SCV002553721 likely benign Autosomal dominant nocturnal frontal lobe epilepsy 5 2022-03-15 criteria provided, single submitter clinical testing

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