ClinVar Miner

Submissions for variant NM_000748.3(CHRNB2):c.211-13T>C

gnomAD frequency: 0.00008  dbSNP: rs201514937
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001684974 SCV001903680 benign not provided 2015-06-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002073212 SCV002434045 benign Autosomal dominant nocturnal frontal lobe epilepsy 2025-01-30 criteria provided, single submitter clinical testing

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