ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.897_898del (p.Ser301fs)

dbSNP: rs61748429
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004814900 SCV005072018 pathogenic Retinal dystrophy 2010-01-01 criteria provided, single submitter clinical testing
OMIM RCV000014057 SCV000034304 pathogenic Patterned macular dystrophy 1 1993-05-01 no assertion criteria provided literature only
Retina International RCV000085029 SCV000117165 not provided not provided no assertion provided not provided
Leiden Open Variation Database RCV000085029 SCV001745120 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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