ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.601-13C>T

dbSNP: rs202113794
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001698234 SCV000526639 likely benign not provided 2019-04-29 criteria provided, single submitter clinical testing
Invitae RCV002062766 SCV002447315 likely benign Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 2023-11-24 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270334 SCV002555250 likely benign Developmental and epileptic encephalopathy, 14 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270335 SCV002555251 likely benign Autosomal dominant nocturnal frontal lobe epilepsy 5 2022-03-15 criteria provided, single submitter clinical testing

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