ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.3288C>T (p.Gly1096=)

gnomAD frequency: 0.00016  dbSNP: rs376167145
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000842565 SCV000984589 likely benign not provided 2019-05-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001480389 SCV001684705 likely benign Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 2025-01-06 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271080 SCV002553660 likely benign Developmental and epileptic encephalopathy, 14 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271081 SCV002553661 likely benign Autosomal dominant nocturnal frontal lobe epilepsy 5 2022-03-15 criteria provided, single submitter clinical testing

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