ClinVar Miner

Submissions for variant NM_004612.4(TGFBR1):c.1446G>C (p.Arg482Ser)

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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 RCV003533864 SCV004244441 likely pathogenic Loeys-Dietz syndrome 2024-02-09 criteria provided, single submitter clinical testing

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