Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001031539 | SCV001194845 | pathogenic | Fanconi anemia | 2021-08-12 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 15-27 of the FANCA gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. This variant has not been reported in the literature in individuals affected with FANCA-related conditions. The region of the FANCA gene that includes exon(s) 15-17 has been determined to be clinically significant (PMID: 9711872, 10521298, 17924555, 23613520). Therefore, deletions that encompass that region are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. |