ClinVar Miner

Submissions for variant NM_001034853.2(RPGR):c.2167del (p.Arg723fs)

dbSNP: rs2067190976
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001091405 SCV001247430 pathogenic not provided 2018-06-01 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001091405 SCV001447573 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004813741 SCV005068900 pathogenic Retinal dystrophy 2018-01-01 criteria provided, single submitter clinical testing

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