Total submissions: 12
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000030222 | SCV000106057 | no known pathogenicity | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | MAF >1% |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000030222 | SCV000052889 | benign | Lynch syndrome | 2011-08-18 | criteria provided, single submitter | curation | Converted during submission to Benign. |
Illumina Laboratory Services, |
RCV000030222 | SCV000443342 | likely benign | Lynch syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000202040 | SCV000601338 | benign | not specified | 2016-12-05 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000034536 | SCV001884477 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 24728327) |
Center for Genomic Medicine, |
RCV000202040 | SCV002550554 | likely benign | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing | |
Biesecker Lab/Clinical Genomics Section, |
RCV000034536 | SCV000043332 | no known pathogenicity | not provided | 2012-07-13 | no assertion criteria provided | research | Converted during submission to Benign. |
ITMI | RCV000202040 | SCV000083973 | not provided | not specified | 2013-09-19 | no assertion provided | reference population | |
Mayo Clinic Laboratories, |
RCV000202040 | SCV000257041 | benign | not specified | no assertion criteria provided | clinical testing | ||
Department of Pathology and Laboratory Medicine, |
RCV000034536 | SCV001550786 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics Laboratory, |
RCV000202040 | SCV001906077 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000034536 | SCV001972481 | likely benign | not provided | no assertion criteria provided | clinical testing |