ClinVar Miner

Submissions for variant NM_080632.3(UPF3B):c.270T>G (p.Tyr90Ter)

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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 RCV002294578 SCV002587079 likely pathogenic Syndromic X-linked intellectual disability 14 2022-10-07 criteria provided, single submitter clinical testing

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