ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.1038C>T (p.Phe346=)

gnomAD frequency: 0.00002  dbSNP: rs767434859
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000538910 SCV000652899 likely benign Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 2023-11-02 criteria provided, single submitter clinical testing
GeneDx RCV001697316 SCV000719432 likely benign not provided 2020-09-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270640 SCV002555299 likely benign Developmental and epileptic encephalopathy, 14 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270641 SCV002555300 likely benign Autosomal dominant nocturnal frontal lobe epilepsy 5 2022-03-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000538910 SCV002795929 likely benign Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 2021-07-07 criteria provided, single submitter clinical testing

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