ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.73_74del (p.Trp25fs)

dbSNP: rs61755765
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV002280866 SCV000034299 pathogenic Retinitis punctata albescens, autosomal dominant 1993-03-01 no assertion criteria provided literature only
Retina International RCV000085020 SCV000117156 not provided not provided no assertion provided not provided
Leiden Open Variation Database RCV000085020 SCV001745028 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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