Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001712297 | SCV000533491 | likely benign | not provided | 2019-08-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000560247 | SCV000624769 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-12-07 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000580208 | SCV000685294 | likely benign | Hereditary cancer-predisposing syndrome | 2016-09-12 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000580208 | SCV001176822 | likely benign | Hereditary cancer-predisposing syndrome | 2019-04-24 | criteria provided, single submitter | clinical testing | This alteration is classified as likely 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. |
Center for Genomic Medicine, |
RCV003320639 | SCV004024794 | likely benign | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV004000541 | SCV004842637 | likely benign | Lynch syndrome | 2023-05-16 | criteria provided, single submitter | clinical testing |