ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.1700G>T (p.Gly567Val)

gnomAD frequency: 0.00001  dbSNP: rs781375160
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000650643 SCV000772490 likely benign Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 2023-01-18 criteria provided, single submitter clinical testing
GeneDx RCV001592817 SCV001823859 uncertain significance not provided 2020-05-05 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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