ClinVar Miner

Submissions for variant NM_000814.6(GABRB3):c.730G>A (p.Gly244Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV004784868 SCV005397075 likely pathogenic Developmental and epileptic encephalopathy, 43 2024-10-10 criteria provided, single submitter clinical testing Criteria applied: PM1,PM2,PP2,PP3

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