ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.774C>A (p.Tyr258Ter)

dbSNP: rs121918564
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV002508118 SCV000034301 pathogenic Vitelliform macular dystrophy 3 1993-03-01 no assertion criteria provided literature only
Leiden Open Variation Database RCV001530382 SCV001745191 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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