ClinVar Miner

Submissions for variant NM_000814.6(GABRB3):c.94G>A (p.Gly32Arg) (rs71651682)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles RCV000735321 SCV000854475 uncertain significance Global developmental delay; Seizures criteria provided, single submitter clinical testing
OMIM RCV000017577 SCV000037849 risk factor Epilepsy, childhood absence 5 2008-06-01 no assertion criteria provided literature only

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