Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000611937 | SCV000716694 | likely benign | not specified | 2017-03-09 | 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. |
Invitae | RCV001434468 | SCV001637274 | likely benign | Fanconi anemia | 2023-01-18 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV001274612 | SCV002808408 | likely benign | Fanconi anemia complementation group C | 2021-07-26 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001274612 | SCV001458896 | uncertain significance | Fanconi anemia complementation group C | 2020-01-11 | no assertion criteria provided | clinical testing |