ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.1511-12C>A

dbSNP: rs549024643
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001698132 SCV000524412 likely benign not provided 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV002062653 SCV002494652 likely benign Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 2024-01-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270282 SCV002555352 likely benign Developmental and epileptic encephalopathy, 14 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270283 SCV002555354 likely benign Autosomal dominant nocturnal frontal lobe epilepsy 5 2022-03-15 criteria provided, single submitter clinical testing

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