Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Revvity Omics, |
RCV001783255 | SCV002022340 | pathogenic | Fanconi anemia complementation group D2 | 2019-05-29 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV002256840 | SCV002529513 | likely pathogenic | Fanconi anemia | 2021-05-05 | criteria provided, single submitter | curation | |
Invitae | RCV002256840 | SCV003294117 | pathogenic | Fanconi anemia | 2023-07-13 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 1322880). This sequence change creates a premature translational stop signal (p.Gln1100Argfs*72) 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 (rs770686014, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with FANCD2-related conditions. For these reasons, this variant has been classified as Pathogenic. |