ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.1036-12T>G

gnomAD frequency: 0.00007  dbSNP: rs113079797
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001703845 SCV000525165 likely benign not provided 2020-01-08 criteria provided, single submitter clinical testing
Invitae RCV002062709 SCV002378620 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 RCV002270300 SCV002555296 likely benign Developmental and epileptic encephalopathy, 14 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270301 SCV002555298 likely benign Autosomal dominant nocturnal frontal lobe epilepsy 5 2022-03-15 criteria provided, single submitter clinical testing

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