ClinVar Miner

Submissions for variant NM_001034853.2(RPGR):c.379del (p.Arg127fs)

dbSNP: rs2067877633
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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 RCV001268201 SCV001446951 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004814052 SCV005069589 pathogenic Retinal dystrophy 2018-01-01 no assertion criteria provided clinical testing

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