ClinVar Miner

Submissions for variant NM_001357.5(DHX9):c.710dup (p.Leu237fs)

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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 RCV003444183 SCV004171247 likely pathogenic Charcot-Marie-Tooth disease 2023-11-30 criteria provided, single submitter clinical testing

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