ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.748T>C (p.Cys250Arg)

dbSNP: rs1064793931
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004815558 SCV005069712 likely pathogenic Retinal dystrophy 2019-01-01 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV001530373 SCV001745180 likely pathogenic not provided 2021-02-26 no assertion criteria provided curation Curator: Global Variome, with Curator vacancy. Submitter to LOVD: LOVD.

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