ClinVar Miner

Submissions for variant NM_000748.3(CHRNB2):c.1191G>C (p.Gln397His) (rs55685423)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145707 SCV000192825 uncertain significance Epilepsy, nocturnal frontal lobe, type 3 2014-01-15 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000178805 SCV000230964 likely benign not specified 2015-05-14 criteria provided, single submitter clinical testing
GeneDx RCV000178805 SCV000240550 benign not specified 2016-07-07 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.
Invitae RCV001084624 SCV000285617 benign Autosomal dominant nocturnal frontal lobe epilepsy 2020-12-08 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000178805 SCV000305487 benign not specified criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000440291 SCV000511851 likely benign not provided 2016-12-01 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Athena Diagnostics Inc RCV000440291 SCV000841505 benign not provided 2017-11-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715679 SCV000846510 benign Seizures 2017-05-28 criteria provided, single submitter clinical testing Co-occurence with a mutation in another gene that clearly explains a proband's phenotype;General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance;In silico models in agreement (benign)

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