ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.2280C>T (p.Ile760=)

dbSNP: rs370521183
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001430431 SCV001633167 likely benign Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 2023-12-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003334012 SCV004042378 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing KCNT1: BP4, BP7

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