Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001031495 | SCV001194801 | pathogenic | Fanconi anemia | 2019-05-16 | criteria provided, single submitter | clinical testing | A gross deletion of the genomic region encompassing the full coding sequence of the FANCA gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. Deletions of the FANCA gene have been observed in individuals affected with Fanconi anemia (PMID: 9721219, 29098742). Loss-of-function variants in FANCA are known to be pathogenic (PMID: 19367192). For these reasons, this variant has been classified as Pathogenic. |