Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Dept. |
RCV001615393 | SCV001832588 | uncertain significance | Fanconi anemia | criteria provided, single submitter | clinical testing | ||
Invitae | RCV001615393 | SCV002239412 | pathogenic | Fanconi anemia | 2020-11-05 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with FANCD2-related conditions. This variant is present in population databases (rs771869385, ExAC 0.01%). This sequence change creates a premature translational stop signal (p.Arg408*) in the FANCD2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FANCD2 are known to be pathogenic (PMID: 17436244). |
Revvity Omics, |
RCV003146223 | SCV003832823 | likely pathogenic | Fanconi anemia complementation group D2 | 2021-12-08 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003146223 | SCV004196706 | pathogenic | Fanconi anemia complementation group D2 | 2023-10-31 | criteria provided, single submitter | clinical testing |