ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.904G>T (p.Glu302Ter)

dbSNP: rs61748430
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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 RCV001199527 SCV001162623 pathogenic Vitelliform macular dystrophy 2 2020-01-09 criteria provided, single submitter research
Institute of Human Genetics, University of Leipzig Medical Center RCV001253500 SCV001429236 likely pathogenic Adult-onset foveomacular vitelliform dystrophy 2020-01-08 criteria provided, single submitter clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004815039 SCV005069725 pathogenic Retinal dystrophy 2021-01-01 criteria provided, single submitter clinical testing
Retina International RCV000085030 SCV000117166 not provided not provided no assertion provided not provided

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