Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000425908 | SCV000533610 | likely benign | not specified | 2016-11-01 | 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 | RCV000574635 | SCV000663763 | likely benign | Hereditary cancer-predisposing syndrome | 2015-10-02 | 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, |
RCV000574635 | SCV000691215 | likely benign | Hereditary cancer-predisposing syndrome | 2017-08-26 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000874162 | SCV001016295 | likely benign | Fanconi anemia complementation group O | 2024-01-26 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000425908 | SCV002065403 | likely benign | not specified | 2021-06-11 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV003477933 | SCV004220130 | likely benign | not provided | 2023-04-07 | criteria provided, single submitter | clinical testing |