ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.6077dup (p.Tyr2026Ter)

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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 RCV002510604 SCV002820072 pathogenic Usher syndrome type 2C 2023-01-16 criteria provided, single submitter clinical testing

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