ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.934del (p.Val312fs)

dbSNP: rs1799986608
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001073279 SCV001238815 pathogenic Retinal dystrophy 2018-10-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001093083 SCV001249897 pathogenic not provided 2017-01-01 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001093083 SCV001905649 pathogenic not provided 2021-09-15 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV001530385 SCV001745194 likely pathogenic Vitelliform macular dystrophy 3 2020-12-01 no assertion criteria provided curation Curator: Global Variome, with Curator vacancy. Submitter to LOVD: Andreas Laner.

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