ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.947G>A (p.Trp316Ter)

dbSNP: rs121918566
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV002508121 SCV000034309 pathogenic Vitelliform macular dystrophy 3 1997-01-01 no assertion criteria provided literature only
Retina International RCV000085035 SCV000117171 not provided not provided no assertion provided not provided
Leiden Open Variation Database RCV000085035 SCV001745200 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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