Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000555138 | SCV000626155 | likely benign | Fanconi anemia | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002293448 | SCV002586516 | uncertain significance | not provided | 2022-10-08 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Fulgent Genetics, |
RCV002476088 | SCV002779915 | uncertain significance | Fanconi anemia complementation group A | 2022-03-29 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000555138 | SCV002095001 | uncertain significance | Fanconi anemia | 2019-10-28 | no assertion criteria provided | clinical testing |