ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.1243+10T>C

gnomAD frequency: 0.00002  dbSNP: rs548537552
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000287911 SCV000358869 uncertain significance Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000352172 SCV000358870 uncertain significance Leber congenital amaurosis 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000923552 SCV001069033 likely benign Leber congenital amaurosis 2; Retinitis pigmentosa 20 2024-01-31 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196851 SCV001367484 uncertain significance Retinitis pigmentosa 20 2020-01-30 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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