Total submissions: 14
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000119170 | SCV000153899 | benign | Fanconi anemia, complementation group O | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000212938 | SCV000171271 | benign | not specified | 2014-04-03 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Ambry Genetics | RCV000129159 | SCV000183887 | benign | Hereditary cancer-predisposing syndrome | 2014-07-28 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |
Prevention |
RCV000212938 | SCV000315331 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Counsyl | RCV000119170 | SCV000489839 | likely benign | Fanconi anemia, complementation group O | 2016-06-10 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000411970 | SCV000489840 | likely benign | Breast-ovarian cancer, familial 3 | 2016-06-10 | criteria provided, single submitter | clinical testing | |
Color | RCV000129159 | SCV000537389 | benign | Hereditary cancer-predisposing syndrome | 2015-10-16 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000212938 | SCV000602139 | benign | not specified | 2016-07-15 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000658791 | SCV000780586 | likely benign | not provided | 2018-07-01 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000658791 | SCV000807169 | likely benign | not provided | 2016-04-14 | criteria provided, single submitter | clinical testing | |
EGL Genetic Diagnostics, |
RCV000212938 | SCV000854882 | benign | not specified | 2018-04-06 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000658791 | SCV000888596 | benign | not provided | 2016-07-15 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000119170 | SCV001140714 | likely benign | Fanconi anemia, complementation group O | 2019-05-28 | criteria provided, single submitter | clinical testing | |
True Health Diagnostics | RCV000129159 | SCV000788200 | likely benign | Hereditary cancer-predisposing syndrome | 2017-12-01 | no assertion criteria provided | clinical testing |