ClinVar Miner

Submissions for variant NM_000748.3(CHRNB2):c.1485C>T (p.Asp495=)

gnomAD frequency: 0.00088  dbSNP: rs144813907
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000186616 SCV000167735 benign not specified 2014-03-26 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Eurofins NTD LLC (GA) RCV000723776 SCV000231574 uncertain significance not provided 2014-05-07 criteria provided, single submitter clinical testing
Invitae RCV001086308 SCV000658093 benign Autosomal dominant nocturnal frontal lobe epilepsy 2021-11-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV000720512 SCV000851389 benign Seizure 2016-12-14 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Athena Diagnostics Inc RCV000186616 SCV001475777 benign not specified 2020-07-28 criteria provided, single submitter clinical testing

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