ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.2944-19T>C

gnomAD frequency: 0.12219  dbSNP: rs759060806
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000513742 SCV000609983 likely benign not provided 2017-06-29 criteria provided, single submitter clinical testing
GeneDx RCV000513742 SCV001866821 benign not provided 2019-08-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270610 SCV002553596 benign Developmental and epileptic encephalopathy, 14 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270611 SCV002553597 benign Autosomal dominant nocturnal frontal lobe epilepsy 5 2022-03-15 criteria provided, single submitter clinical testing

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