Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001389630 | SCV001591057 | pathogenic | Fanconi anemia | 2023-05-18 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1075925). This variant has not been reported in the literature in individuals affected with FANCD2-related conditions. This variant is present in population databases (rs762724830, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Glu949*) 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). |
Fulgent Genetics, |
RCV002499814 | SCV002807417 | likely pathogenic | Fanconi anemia complementation group D2 | 2021-11-11 | criteria provided, single submitter | clinical testing |