ClinVar Miner

Submissions for variant NM_000748.3(CHRNB2):c.122G>A (p.Arg41His)

gnomAD frequency: 0.00004  dbSNP: rs199999862
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000486786 SCV000569262 likely benign not provided 2021-01-04 criteria provided, single submitter clinical testing
Invitae RCV001034226 SCV001197557 likely benign Autosomal dominant nocturnal frontal lobe epilepsy 2023-06-18 criteria provided, single submitter clinical testing
New York Genome Center RCV001839002 SCV002099096 uncertain significance Autosomal dominant nocturnal frontal lobe epilepsy 3 2021-03-05 criteria provided, single submitter clinical testing

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