ClinVar Miner

Submissions for variant NM_000748.3(CHRNB2):c.1233G>A (p.Ala411=) (rs55857552)

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Total submissions: 6
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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.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000186615 SCV000230963 benign not specified 2017-05-18 criteria provided, single submitter clinical testing
Invitae RCV001084911 SCV000561323 benign Autosomal dominant nocturnal frontal lobe epilepsy 2020-12-08 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 RCV000715689 SCV000846520 likely benign Seizures 2016-05-17 criteria provided, single submitter clinical testing In silico models in agreement (benign);Synonymous alterations with insufficient evidence to classify as benign
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000600905 SCV000733947 likely benign Epilepsy, nocturnal frontal lobe, type 3 no assertion criteria provided clinical testing

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