Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000671285 | SCV000796246 | likely pathogenic | Fanconi anemia complementation group A | 2017-12-08 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001383586 | SCV001582778 | pathogenic | Fanconi anemia | 2024-03-15 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu648Aspfs*13) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Fanconi anemia (PMID: 9371798). ClinVar contains an entry for this variant (Variation ID: 555461). For these reasons, this variant has been classified as Pathogenic. |
MGZ Medical Genetics Center | RCV000671285 | SCV002580285 | likely pathogenic | Fanconi anemia complementation group A | 2021-12-27 | criteria provided, single submitter | clinical testing | |
Leiden Open Variation Database | RCV000671285 | SCV001425940 | pathogenic | Fanconi anemia complementation group A | 2020-02-28 | no assertion criteria provided | curation | Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach. |