ClinVar Miner

Submissions for variant NM_001162501.2(TNRC6B):c.1660del (p.Gln554fs)

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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 Medical Genetics and Applied Genomics, University Hospital Tübingen RCV002463391 SCV002757806 pathogenic Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies; Global developmental delay with speech and behavioral abnormalities 2022-12-01 criteria provided, single submitter clinical testing

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