ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.13del (p.Thr5fs)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV003397009 SCV004102629 pathogenic Retinoblastoma 2023-11-15 criteria provided, single submitter clinical testing
Genetic Diagnostic Laboratory, University of Pennsylvania School of Medicine RCV003397009 SCV005046055 pathogenic Retinoblastoma 2024-05-20 criteria provided, single submitter clinical testing Case and Pedigree Information: BILATERAL CASES:0, UNILATERAL CASES:1, TOTAL CASES:1, PEDIGREES:1. ACMG Codes Applied:PVS1, PM2
Laboratory of Urology, Hospital Clinic de Barcelona RCV003332968 SCV004040547 uncertain significance Malignant tumor of urinary bladder no assertion criteria provided research

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