Total submissions: 14
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Diagnostic Laboratory, |
RCV000202811 | SCV000257706 | benign | Lynch syndrome | 2015-07-10 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000584541 | SCV000691105 | benign | Hereditary cancer-predisposing syndrome | 2022-11-03 | criteria provided, single submitter | clinical testing | |
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000625387 | SCV000745196 | benign | Lynch syndrome 4 | 2016-06-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001520936 | SCV001730153 | benign | Hereditary nonpolyposis colorectal neoplasms | 2023-07-16 | criteria provided, single submitter | clinical testing | |
Institute for Clinical Genetics, |
RCV003237763 | SCV002009092 | benign | not provided | 2021-11-03 | criteria provided, single submitter | clinical testing | |
Center for Genomic Medicine, |
RCV001356473 | SCV002550744 | likely benign | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000584541 | SCV002662443 | likely benign | Hereditary cancer-predisposing syndrome | 2014-12-22 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Prevention |
RCV003977555 | SCV004790767 | benign | PMS2-related condition | 2020-03-20 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Genome Diagnostics Laboratory, |
RCV000625387 | SCV000745848 | benign | Lynch syndrome 4 | 2015-05-08 | no assertion criteria provided | clinical testing | |
Department of Pathology and Laboratory Medicine, |
RCV001356473 | SCV001551653 | benign | not specified | no assertion criteria provided | clinical testing | ||
Diagnostic Laboratory, |
RCV001356473 | SCV001742703 | benign | not specified | no assertion criteria provided | clinical testing | ||
Laboratory of Diagnostic Genome Analysis, |
RCV001356473 | SCV001798750 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics Laboratory, |
RCV001356473 | SCV001905924 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV001356473 | SCV001919043 | benign | not specified | no assertion criteria provided | clinical testing |