ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.760del (p.Leu254fs)

dbSNP: rs1800111025
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268552 SCV001447551 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV001268552 SCV001745187 pathogenic not provided 2020-06-19 no assertion criteria provided curation Curator: Global Variome, with Curator vacancy. Submitter to LOVD: IMGAG.
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004814053 SCV005072651 pathogenic Retinal dystrophy 2020-01-01 no assertion criteria provided clinical testing

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