ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.699T>A (p.Cys233Ter)

dbSNP: rs1659643864
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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 RCV001198728 SCV001369723 pathogenic Pigmented paravenous retinochoroidal atrophy 2020-01-19 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2,PP3. This variant was detected in homozygous state.

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