ClinVar Miner

Submissions for variant NM_000814.6(GABRB3):c.766C>G (p.Leu256Val)

dbSNP: rs1555401942
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000503999 SCV000594903 likely pathogenic Epilepsy, childhood absence, susceptibility to, 5 2017-03-29 criteria provided, single submitter clinical testing

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