ClinVar Miner

Submissions for variant NM_001127644.2(GABRA1):c.966C>T (p.Ala322=)

gnomAD frequency: 0.00004  dbSNP: rs201133616
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001504180 SCV001709051 likely benign Idiopathic generalized epilepsy; Epilepsy, idiopathic generalized, susceptibility to, 13; Epilepsy, childhood absence 4 2023-07-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002382126 SCV002694216 likely benign Inborn genetic diseases 2019-10-23 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.
CeGaT Center for Human Genetics Tuebingen RCV003424480 SCV004157951 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing GABRA1: BP4, BP7

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