Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Revvity Omics, |
RCV001783254 | SCV002022339 | pathogenic | Fanconi anemia complementation group D2 | 2019-05-20 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV001783254 | SCV002777771 | pathogenic | Fanconi anemia complementation group D2 | 2021-11-16 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003772136 | SCV004622118 | pathogenic | Fanconi anemia | 2023-11-09 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Lys33Asnfs*16) 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). This variant is present in population databases (no rsID available, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with FANCD2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1322879). For these reasons, this variant has been classified as Pathogenic. |