ClinVar Miner

Submissions for variant NM_001162501.2(TNRC6B):c.3282dup (p.Phe1095fs)

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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 Goettingen RCV003482901 SCV004231744 likely pathogenic Global developmental delay with speech and behavioral abnormalities 2024-01-15 criteria provided, single submitter clinical testing

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