ClinVar Miner

Submissions for variant NM_000814.6(GABRB3):c.841A>G (p.Thr281Ala)

dbSNP: rs1555401442
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000662203 SCV000784558 uncertain significance Developmental and epileptic encephalopathy, 1 2018-03-05 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000662204 SCV000784559 uncertain significance Epilepsy, childhood absence, susceptibility to, 1 2018-03-05 criteria provided, single submitter clinical testing
Baylor Genetics RCV003333096 SCV004041323 likely pathogenic Developmental and epileptic encephalopathy, 43 2023-03-02 criteria provided, single submitter clinical testing

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