ClinVar Miner

Submissions for variant NM_000744.7(CHRNA4):c.915C>T (p.Leu305=)

gnomAD frequency: 0.00001  dbSNP: rs121912258
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002055250 SCV002323912 likely benign Autosomal dominant nocturnal frontal lobe epilepsy 2023-02-17 criteria provided, single submitter clinical testing
Psychiatry Genetics Yale University RCV000084629 SCV000116765 not provided Tobacco use disorder no assertion provided not provided

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