ClinVar Miner

Submissions for variant NM_015629.4(PRPF31):c.652_655dup (p.Leu219fs)

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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 Medical Genetics and Applied Genomics, University Hospital Tübingen RCV003313014 SCV004012081 pathogenic Retinitis pigmentosa 2023-07-11 criteria provided, single submitter clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004818316 SCV005072447 pathogenic Retinal dystrophy 2018-01-01 no assertion criteria provided clinical testing

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