Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000075640 | SCV000106647 | likely benign | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Intronic variant with no effect on splicing & MAF 0.01-1% |
Gene |
RCV000157756 | SCV000170285 | benign | not specified | 2013-12-24 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Color Diagnostics, |
RCV000579744 | SCV000684818 | benign | Hereditary cancer-predisposing syndrome | 2015-04-25 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000987149 | SCV001136372 | likely benign | Colorectal cancer, hereditary nonpolyposis, type 2 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002054914 | SCV002364615 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Center for Genomic Medicine, |
RCV000157756 | SCV002552420 | likely benign | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000579744 | SCV002753741 | benign | Hereditary cancer-predisposing syndrome | 2014-11-18 | criteria provided, single submitter | clinical testing | This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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. |
Fulgent Genetics, |
RCV002504979 | SCV002810778 | likely benign | Mismatch repair cancer syndrome 1; Muir-Torré syndrome; Colorectal cancer, hereditary nonpolyposis, type 2 | 2021-11-24 | criteria provided, single submitter | clinical testing | |
Narod's Lab, |
RCV000059814 | SCV000091384 | not provided | not provided | no assertion provided | not provided |