ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.736T>C (p.Trp246Arg)

dbSNP: rs61755817
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV003114252 SCV003798487 likely pathogenic Vitelliform macular dystrophy 3 2023-02-08 criteria provided, single submitter clinical testing
Retina International RCV000085019 SCV000117155 not provided not provided no assertion provided not provided
Department of Ophthalmology and Visual Sciences Kyoto University RCV000132580 SCV000172523 pathogenic Retinitis pigmentosa no assertion criteria provided not provided Converted during submission to Pathogenic.
Leiden Open Variation Database RCV000085019 SCV001745110 likely pathogenic not provided 2021-04-06 no assertion criteria provided curation Curator: Global Variome, with Curator vacancy. Submitter to LOVD: Manon Peeters.

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