Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003535739 | SCV000562627 | likely benign | Familial adenomatous polyposis 1 | 2024-01-13 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000573941 | SCV000667332 | likely benign | Hereditary cancer-predisposing syndrome | 2015-01-12 | 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, |
RCV000573941 | SCV000681765 | likely benign | Hereditary cancer-predisposing syndrome | 2016-08-06 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000473083 | SCV001916247 | likely benign | not provided | 2019-03-19 | criteria provided, single submitter | clinical testing | |
KCCC/NGS Laboratory, |
RCV002525727 | SCV004015724 | likely benign | Familial adenomatous polyposis 1 | 2023-07-07 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000473083 | SCV004219612 | likely benign | not provided | 2022-08-03 | criteria provided, single submitter | clinical testing |