Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000074810 | SCV000108022 | no known pathogenicity | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | MAF >1% |
Gene |
RCV001618242 | SCV001844233 | benign | not provided | 2018-06-21 | criteria provided, single submitter | clinical testing | |
Unidad de Genómica Garrahan, |
RCV000202182 | SCV004233189 | benign | not specified | 2024-01-24 | criteria provided, single submitter | clinical testing | This variant is classified as Benign based on local population frequency. This variant was detected in 64% of patients studied by a panel of primary immunodeficiencies. Number of patients: 61. Only high quality variants are reported. |
Mayo Clinic Laboratories, |
RCV000202182 | SCV000257237 | benign | not specified | no assertion criteria provided | research | ||
Clinical Genetics Laboratory, |
RCV000202182 | SCV001906059 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000202182 | SCV001954775 | benign | not specified | no assertion criteria provided | clinical testing |