ClinVar Miner

Submissions for variant NM_000744.7(CHRNA4):c.858C>T (p.Thr286=)

gnomAD frequency: 0.00004  dbSNP: rs121912257
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000711167 SCV000522440 likely benign not provided 2020-07-21 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711167 SCV000841497 benign not provided 2017-09-25 criteria provided, single submitter clinical testing
Invitae RCV001089074 SCV001009424 likely benign Autosomal dominant nocturnal frontal lobe epilepsy 2023-10-10 criteria provided, single submitter clinical testing
Psychiatry Genetics Yale University RCV000084628 SCV000116764 not provided Tobacco use disorder no assertion provided not provided

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