ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.1899G>A (p.Ser633=)

gnomAD frequency: 0.00012  dbSNP: rs371135108
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724212 SCV000226828 uncertain significance not provided 2014-11-12 criteria provided, single submitter clinical testing
GeneDx RCV000724212 SCV000528134 likely benign not provided 2019-08-29 criteria provided, single submitter clinical testing
Invitae RCV001085956 SCV000563632 likely benign Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 2024-01-09 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000724212 SCV001155841 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing KCNT1: BP4, BP7

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