ClinVar Miner

Submissions for variant NM_000814.6(GABRB3):c.1293G>A (p.Arg431=)

gnomAD frequency: 0.00044  dbSNP: rs75914945
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000487529 SCV000528038 benign not provided 2019-10-09 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000487529 SCV000574999 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing GABRB3: BP4, BP7, BS1
Athena Diagnostics Inc RCV000438799 SCV000613365 benign not specified 2017-06-16 criteria provided, single submitter clinical testing
Invitae RCV001080926 SCV000646964 likely benign Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence, susceptibility to, 5 2024-01-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002379350 SCV002695476 likely benign Inborn genetic diseases 2019-08-26 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.

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