ClinVar Miner

Submissions for variant NM_001034853.2(RPGR):c.299T>C (p.Leu100Pro)

dbSNP: rs1064797366
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000487612 SCV000575635 uncertain significance not provided 2017-11-01 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV001199550 SCV001162671 pathogenic Retinitis pigmentosa 2020-01-09 criteria provided, single submitter research
Blueprint Genetics RCV001075427 SCV001241050 uncertain significance Retinal dystrophy 2018-08-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000487612 SCV002759591 likely pathogenic not provided 2022-08-09 criteria provided, single submitter clinical testing

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