ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.2028C>G (p.Tyr676Ter)

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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 RCV005205663 SCV005848199 pathogenic Usher syndrome type 1 2025-02-19 criteria provided, single submitter clinical testing

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