Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001033038 | SCV001196345 | pathogenic | Fanconi anemia | 2021-12-25 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 8 of the FANCC gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in FANCC are known to be pathogenic (PMID: 17924555). A similar copy number variant has been observed in individual(s) with Fanconi anemia (PMID: 25168418). For these reasons, this variant has been classified as Pathogenic. |