ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.749G>T (p.Cys250Phe)

dbSNP: rs1458793437
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001073397 SCV001238938 likely pathogenic Retinal dystrophy 2019-01-14 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV001530374 SCV001745182 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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