Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003535604 | SCV000282720 | benign | Familial adenomatous polyposis 1 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001172163 | SCV000528648 | likely benign | not provided | 2019-06-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000563734 | SCV000667402 | likely benign | Hereditary cancer-predisposing syndrome | 2016-03-25 | 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. |
Color Diagnostics, |
RCV000563734 | SCV000681533 | likely benign | Hereditary cancer-predisposing syndrome | 2016-06-15 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001172163 | SCV001335134 | likely benign | not provided | 2020-03-01 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001172163 | SCV004222228 | likely benign | not provided | 2023-07-03 | criteria provided, single submitter | clinical testing |