Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000555905 | SCV000626152 | pathogenic | Fanconi anemia | 2022-02-02 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with FANCA-related conditions. ClinVar contains an entry for this variant (Variation ID: 456084). For these reasons, this variant has been classified as Pathogenic. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Ile604Tyrfs*9) in the FANCA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FANCA are known to be pathogenic (PMID: 19367192). |
Fulgent Genetics, |
RCV002497048 | SCV002809774 | likely pathogenic | Fanconi anemia complementation group A | 2021-08-30 | criteria provided, single submitter | clinical testing |