ClinVar Miner

Submissions for variant NM_022370.4(ROBO3):c.1158G>C (p.Gln386His)

dbSNP: rs1286915599
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Total submissions: 1
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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 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.

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