ClinVar Miner

Submissions for variant NM_001162501.2(TNRC6B):c.3298C>T (p.Arg1100Ter)

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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 RCV005247938 SCV005900172 pathogenic Global developmental delay with speech and behavioral abnormalities 2025-03-04 criteria provided, single submitter clinical testing Criteria applied: PVS1,PM2

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