Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000668571 | SCV000793196 | likely pathogenic | Fanconi anemia complementation group A | 2017-08-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001855502 | SCV002235644 | pathogenic | Fanconi anemia | 2022-02-10 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu922Metfs*4) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 553176). This variant has not been reported in the literature in individuals affected with FANCA-related conditions. This variant is not present in population databases (gnomAD no frequency). |
Baylor Genetics | RCV000668571 | SCV004196611 | likely pathogenic | Fanconi anemia complementation group A | 2022-10-21 | criteria provided, single submitter | clinical testing |