ClinVar Miner

Submissions for variant NM_012469.4(PRPF6):c.1451A>C (p.Glu484Ala)

dbSNP: rs2059216772
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001198278 SCV001369158 uncertain significance Retinitis pigmentosa 60 2019-05-27 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The following ACMG criteria were applied in classifying this variant: PM2.

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