ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.1306G>A (p.Ala436Thr)

dbSNP: rs1832220041
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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 RCV001034312 SCV001197653 likely benign Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 2024-10-24 criteria provided, single submitter clinical testing

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