Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001712360 | SCV000515414 | likely benign | not provided | 2019-10-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001013369 | SCV001173948 | likely benign | Hereditary cancer-predisposing syndrome | 2018-01-18 | 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. |
Invitae | RCV003535704 | SCV001647407 | likely benign | Familial adenomatous polyposis 1 | 2023-09-26 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001013369 | SCV002053338 | likely benign | Hereditary cancer-predisposing syndrome | 2021-04-20 | criteria provided, single submitter | clinical testing |