ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.600+9C>T

gnomAD frequency: 0.00003  dbSNP: rs1287458024
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000515031 SCV000609645 uncertain significance not provided 2017-04-04 criteria provided, single submitter clinical testing
Invitae RCV003766898 SCV004604883 likely benign Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 2023-09-22 criteria provided, single submitter clinical testing

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