ClinVar Miner

Submissions for variant NM_001034853.2(RPGR):c.29-1G>T

dbSNP: rs2067987832
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV001199767 SCV001162683 pathogenic Retinitis pigmentosa 2020-01-09 criteria provided, single submitter research
Blueprint Genetics RCV001074324 SCV001239897 pathogenic Retinal dystrophy 2019-06-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001092674 SCV001249292 pathogenic not provided 2019-01-01 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001092674 SCV001762169 likely pathogenic not provided 2021-06-17 criteria provided, single submitter clinical testing

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