ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.1150del (p.Tyr384fs)

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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 RCV004720741 SCV005335103 pathogenic Usher syndrome type 2A 2024-10-02 criteria provided, single submitter clinical testing

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