ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.1749G>C (p.Ala583=)

dbSNP: rs17038714
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001430485 SCV001633226 likely benign Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 2023-09-12 criteria provided, single submitter clinical testing
GeneDx RCV001587409 SCV001826244 likely benign not provided 2020-01-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271239 SCV002555390 likely benign Developmental and epileptic encephalopathy, 14 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271240 SCV002555391 likely benign Autosomal dominant nocturnal frontal lobe epilepsy 5 2022-03-15 criteria provided, single submitter clinical testing

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