ClinVar Miner

Submissions for variant NM_001083619.3(GRIA2):c.518G>T (p.Trp173Leu)

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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 RCV004759685 SCV005368515 uncertain significance Neurodevelopmental disorder with language impairment and behavioral abnormalities 2024-09-18 criteria provided, single submitter clinical testing Criteria applied: PM2_SUP,PP3

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