ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.793dup (p.Met265fs)

dbSNP: rs1800110234
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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 RCV001199161 SCV001370157 likely pathogenic Pigmentary retinal dystrophy 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2.

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