ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.1769+16A>G

gnomAD frequency: 0.72033  dbSNP: rs10776844
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175227 SCV000226673 benign not specified 2014-09-04 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV000175227 SCV000313662 benign not specified criteria provided, single submitter clinical testing
Invitae RCV001513766 SCV001721441 benign Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001610485 SCV001833225 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730578 SCV001980927 benign Developmental and epileptic encephalopathy, 14 2021-08-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730579 SCV001980928 benign Autosomal dominant nocturnal frontal lobe epilepsy 5 2021-08-19 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000175227 SCV001926043 benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000175227 SCV001963065 benign not specified no assertion criteria provided clinical testing

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