Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Myriad Genetics, |
RCV001264296 | SCV001442400 | likely pathogenic | Fanconi anemia complementation group A | 2019-02-21 | criteria provided, single submitter | clinical testing | |
Laboratory of Medical Genetics, |
RCV001264296 | SCV001976669 | pathogenic | Fanconi anemia complementation group A | 2021-10-01 | criteria provided, single submitter | clinical testing | PVS1, PM2, PP3 |
Labcorp Genetics |
RCV001880078 | SCV002170586 | pathogenic | Fanconi anemia | 2022-01-03 | 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: 984286). This premature translational stop signal has been observed in individual(s) with hematologic abnormalities (PMID: 34008892). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gly28*) 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). |
Baylor Genetics | RCV001264296 | SCV004196640 | pathogenic | Fanconi anemia complementation group A | 2022-04-07 | criteria provided, single submitter | clinical testing |