ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.1619+5GTGCCCC[3]

dbSNP: rs573524284
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002248707 SCV000571963 likely benign not provided 2022-05-17 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Invitae RCV001505729 SCV001710637 likely benign Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 2024-01-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270580 SCV002555366 likely benign Developmental and epileptic encephalopathy, 14 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270581 SCV002555367 likely benign Autosomal dominant nocturnal frontal lobe epilepsy 5 2022-03-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002248707 SCV003917737 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing KCNT1: BS1

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