ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.656C>G (p.Pro219Arg)

dbSNP: rs61755808
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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 RCV004815034 SCV005071819 pathogenic Retinal dystrophy 2023-01-01 criteria provided, single submitter clinical testing
Retina International RCV000085008 SCV000117144 not provided not provided no assertion provided not provided
Leiden Open Variation Database RCV000085008 SCV001744984 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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