ClinVar Miner

Submissions for variant NM_000748.3(CHRNB2):c.1338+14G>T

gnomAD frequency: 0.07732  dbSNP: rs4845378
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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 RCV000145708 SCV000305488 benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000145708 SCV000331738 benign not specified 2016-03-16 criteria provided, single submitter clinical testing
GeneDx RCV001682846 SCV001903206 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Invitae RCV002055880 SCV002390935 benign Autosomal dominant nocturnal frontal lobe epilepsy 2024-02-01 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000145708 SCV000192826 likely benign not specified no assertion criteria provided clinical testing

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