ClinVar Miner

Submissions for variant NM_001034853.2(RPGR):c.3457T>A (p.Ter1153Lys)

dbSNP: rs2067111489
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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 RCV001199003 SCV001369998 likely pathogenic Retinitis pigmentosa 3 2019-08-22 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PM2,PM4,PP4,PP5. This variant was detected in hemizygous state.

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