ClinVar Miner

Submissions for variant NM_000748.3(CHRNB2):c.210+9A>G

gnomAD frequency: 0.10829  dbSNP: rs3926124
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000145710 SCV000305490 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000464092 SCV000561324 benign Autosomal dominant nocturnal frontal lobe epilepsy 2025-02-04 criteria provided, single submitter clinical testing
GeneDx RCV001650994 SCV001862399 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001650994 SCV005279964 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000145710 SCV000192828 likely benign not specified no assertion criteria provided clinical testing

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