ClinVar Miner

Submissions for variant NM_021912.5(GABRB3):c.44C>T (p.Ser15Phe)

gnomAD frequency: 0.00016  dbSNP: rs121913126
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001719697 SCV000491213 likely benign not provided 2018-05-21 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 22206818, 19396344, 20308251, 22787601, 19717338, 26645412, 18514161)
Athena Diagnostics Inc RCV000414639 SCV000613367 uncertain significance not specified 2017-05-16 criteria provided, single submitter clinical testing
Invitae RCV001460762 SCV001664641 likely benign Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence, susceptibility to, 5 2022-01-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002326679 SCV002635407 likely benign Inborn genetic diseases 2019-06-21 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.
OMIM RCV000017576 SCV000037848 risk factor Epilepsy, childhood absence, susceptibility to, 5 2008-06-01 no assertion criteria provided literature only

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