ClinVar Miner

Submissions for variant NM_000748.3(CHRNB2):c.1233G>A (p.Ala411=)

gnomAD frequency: 0.00330  dbSNP: rs55857552
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000186615 SCV000167731 benign not specified 2013-12-12 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) RCV000186615 SCV000230963 benign not specified 2017-05-18 criteria provided, single submitter clinical testing
Invitae RCV001084911 SCV000561323 benign Autosomal dominant nocturnal frontal lobe epilepsy 2024-01-27 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711175 SCV000841506 benign not provided 2018-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002312548 SCV000846520 likely benign Inborn genetic diseases 2016-05-17 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.
Fulgent Genetics, Fulgent Genetics RCV000600905 SCV002805033 likely benign Autosomal dominant nocturnal frontal lobe epilepsy 3 2021-07-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000711175 SCV004032973 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing CHRNB2: BP4, BP7, BS1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000600905 SCV000733947 likely benign Autosomal dominant nocturnal frontal lobe epilepsy 3 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000711175 SCV001932187 likely benign not provided no assertion criteria provided clinical testing

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