Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000074995 | SCV000108213 | no known pathogenicity | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | MAF >1% |
Counsyl | RCV000412274 | SCV000488266 | benign | Lynch syndrome 5 | 2016-02-10 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001001447 | SCV001158688 | benign | not specified | 2018-07-02 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001650891 | SCV001869811 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
KCCC/NGS Laboratory, |
RCV000412274 | SCV004015976 | benign | Lynch syndrome 5 | 2023-07-07 | criteria provided, single submitter | clinical testing | |
Unidad de Genómica Garrahan, |
RCV001001447 | SCV004233526 | 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 39% of patients studied by a panel of primary immunodeficiencies. Number of patients: 37. Only high quality variants are reported. |
Breakthrough Genomics, |
RCV001650891 | SCV005243551 | benign | not provided | criteria provided, single submitter | not provided | ||
Clinical Genetics Laboratory, |
RCV001001447 | SCV001906124 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001001447 | SCV001951513 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001001447 | SCV001974937 | benign | not specified | no assertion criteria provided | clinical testing |