ClinVar Miner

Submissions for variant NM_022370.4(ROBO3):c.2312C>T (p.Pro771Leu)

dbSNP: rs1946347156
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001290386 SCV001468612 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: 19041479 with original nomenclature reported as c.2312C>T (p.Pro771Leu). Variant was re-classified as Likely Pathogenic based on the criteria PM2_Supporting, PM3_Moderate, PP4_Supporting, BP4_Supporting.
Pathology and Clinical Laboratory Medicine, King Fahad Medical City RCV001290386 SCV002073839 likely pathogenic Gaze palsy, familial horizontal, with progressive scoliosis 1 criteria provided, single submitter clinical testing

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