ClinVar Miner

Submissions for variant NM_000814.6(GABRB3):c.239T>G (p.Met80Arg)

dbSNP: rs1064794797
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001308777 SCV001498247 uncertain significance Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence, susceptibility to, 5 2021-09-02 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals RCV000677391 SCV000803685 likely pathogenic Developmental and epileptic encephalopathy, 43 2017-08-31 no assertion criteria provided clinical testing

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