ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.1620-10_1620-5dup

dbSNP: rs754045989
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003441893 SCV000569696 likely benign not provided 2023-10-10 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Invitae RCV002056780 SCV002329766 benign Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 2023-12-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270570 SCV002555374 benign Developmental and epileptic encephalopathy, 14 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270571 SCV002555376 benign Autosomal dominant nocturnal frontal lobe epilepsy 5 2022-03-15 criteria provided, single submitter clinical testing

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