ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.3153G>A (p.Ser1051=)

gnomAD frequency: 0.00006  dbSNP: rs141802876
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001085088 SCV000563655 likely benign Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 2023-12-11 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000726959 SCV000704451 uncertain significance not provided 2017-01-12 criteria provided, single submitter clinical testing
GeneDx RCV000726959 SCV000731147 likely benign not provided 2020-02-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000726959 SCV004158991 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing KCNT1: BP4, BP7

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