Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000465485 | SCV000547762 | pathogenic | Fanconi anemia | 2023-05-11 | 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: 408188). This premature translational stop signal has been observed in individuals with Fanconi anemia (PMID: 26799702, 29098742). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg917*) 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). |
Ce |
RCV001091061 | SCV001246905 | pathogenic | not provided | 2019-08-01 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV003243136 | SCV003936905 | pathogenic | Fanconi anemia complementation group A | 2022-12-22 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003243136 | SCV004196574 | pathogenic | Fanconi anemia complementation group A | 2023-03-14 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000465485 | SCV002092583 | pathogenic | Fanconi anemia | 2021-08-23 | no assertion criteria provided | clinical testing |