ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.2349+8del

dbSNP: rs748745850
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001475291 SCV001679481 likely benign Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 2019-11-08 criteria provided, single submitter clinical testing

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