ClinVar Miner

Submissions for variant NM_001034853.2(RPGR):c.3364del (p.Met1122fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004817298 SCV005070596 pathogenic Retinal dystrophy 2016-01-01 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV004698598 SCV005200183 pathogenic X-linked cone-rod dystrophy 1 2024-08-29 criteria provided, single submitter clinical testing

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