ClinVar Miner

Submissions for variant NM_001042424.3(NSD2):c.28dup (p.Leu10fs)

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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 RCV003236700 SCV003935183 pathogenic Rauch-Steindl syndrome 2023-06-26 criteria provided, single submitter clinical testing

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