ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.3147C>T (p.Ser1049=)

gnomAD frequency: 0.00001  dbSNP: rs765432746
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000517139 SCV000613894 likely benign not specified 2017-08-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000650671 SCV000772518 likely benign Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 2024-10-24 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270617 SCV002553629 likely benign Developmental and epileptic encephalopathy, 14 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270618 SCV002553630 likely benign Autosomal dominant nocturnal frontal lobe epilepsy 5 2022-03-15 criteria provided, single submitter clinical testing

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