ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.418_421dup (p.Tyr141fs)

dbSNP: rs672601326
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000014060 SCV000034307 pathogenic Patterned macular dystrophy 1 1995-04-01 no assertion criteria provided literature only
Leiden Open Variation Database RCV001530288 SCV001745046 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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