ClinVar Miner

Submissions for variant NM_000814.6(GABRB3):c.695G>C (p.Arg232Pro)

dbSNP: rs797045045
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000191088 SCV000245485 likely pathogenic Epilepsy, childhood absence, susceptibility to, 5 2014-04-14 criteria provided, single submitter clinical testing Likely pathogenicity based on finding it once in our laboratory de novo in a 20-year-old female with intellectual disability and seizure disorder

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