ClinVar Miner

Submissions for variant NM_001034853.2(RPGR):c.2548G>T (p.Glu850Ter)

dbSNP: rs1601922074
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001091399 SCV001247422 pathogenic not provided 2023-12-01 criteria provided, single submitter clinical testing RPGR: PVS1:Strong, PM2, PP1:Moderate, PP4:Moderate
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001091399 SCV001762008 pathogenic not provided 2021-06-17 criteria provided, single submitter clinical testing

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