ClinVar Miner

Submissions for variant NM_004698.4(PRPF3):c.1224AGA[1] (p.Glu409del)

dbSNP: rs1657568113
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV001794533 SCV002032323 uncertain significance Retinitis pigmentosa 18 2021-12-14 criteria provided, single submitter clinical testing The variant c.1227_1229del p.(Glu409del) in exon 9 of the PRPF3 gene is not found in the gnomAD database and leads to the loss of the amino acid residue Glu409. ACMG criteria used for classification: PM2,PM4.

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