ClinVar Miner

Submissions for variant NM_000744.7(CHRNA4):c.1087G>A (p.Val363Met)

gnomAD frequency: 0.00008  dbSNP: rs121912266
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704009 SCV000240506 likely benign not provided 2019-11-25 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 21683344)
Labcorp Genetics (formerly Invitae), Labcorp RCV000707359 SCV000836453 likely benign Autosomal dominant nocturnal frontal lobe epilepsy 2025-01-06 criteria provided, single submitter clinical testing
Psychiatry Genetics Yale University RCV000084594 SCV000116730 not provided Tobacco use disorder no assertion provided not provided

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