ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.2350-8G>A

gnomAD frequency: 0.00096  dbSNP: rs371678685
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001697814 SCV000526177 benign not provided 2020-12-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001517581 SCV001726107 benign Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 2024-09-17 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270322 SCV002555474 benign Developmental and epileptic encephalopathy, 14 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270323 SCV002555476 benign Autosomal dominant nocturnal frontal lobe epilepsy 5 2022-03-15 criteria provided, single submitter clinical testing

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