Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003651907 | SCV000562615 | likely benign | Familial adenomatous polyposis 1 | 2023-09-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000612985 | SCV000713856 | likely benign | not provided | 2019-04-03 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001187395 | SCV001354188 | likely benign | Hereditary cancer-predisposing syndrome | 2018-11-12 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001187395 | SCV002666331 | likely benign | Hereditary cancer-predisposing syndrome | 2015-07-01 | 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. |