ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.749G>A (p.Cys250Tyr)

dbSNP: rs1458793437
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004815559 SCV005072420 pathogenic Retinal dystrophy 2018-01-01 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV001530375 SCV001745183 likely pathogenic not provided 2021-04-06 no assertion criteria provided curation Curator: Global Variome, with Curator vacancy. Submitters to LOVD: LOVD, Manon Peeters.
Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana RCV002223311 SCV002500970 likely pathogenic Patterned macular dystrophy 1 2022-04-21 no assertion criteria provided research MACULAR DISEASE

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