Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV001290392 | SCV001468599 | likely pathogenic | Gaze palsy, familial horizontal, with progressive scoliosis 1 | 2021-01-09 | criteria provided, single submitter | curation | This ROBO3 variant was reported as Pathogenic​ in PMID: 27318526 with original nomenclature reported as c.1158G>C, Q386H. Variant was re-classified as Likely Pathogenic based on the criteria PVS1_Moderate, PM2_Supporting, PM3_Moderate, PP3_Supporting, PP4_Supporting. |