ClinVar Miner

Submissions for variant NM_024665.7(TBL1XR1):c.865-7A>G

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics Laboratory, Skane University Hospital Lund RCV005233177 SCV005880105 likely pathogenic Intellectual disability 2025-03-06 criteria provided, single submitter clinical testing PS2, PM2, PP3

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