ClinVar Miner

Submissions for variant NM_000742.4(CHRNA2):c.873C>T (p.Ser291=)

gnomAD frequency: 0.00001  dbSNP: rs76140563
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000153030 SCV000202476 uncertain significance not provided 2014-04-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002316961 SCV000850961 likely benign Inborn genetic diseases 2016-03-13 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV001086845 SCV001001771 likely benign Autosomal dominant nocturnal frontal lobe epilepsy 2019-09-11 criteria provided, single submitter clinical testing
GeneDx RCV000153030 SCV001833443 likely benign not provided 2019-01-08 criteria provided, single submitter clinical testing

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