Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000674999 | SCV000800423 | likely pathogenic | Fanconi anemia complementation group C | 2018-06-05 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000674999 | SCV001163263 | likely pathogenic | Fanconi anemia complementation group C | criteria provided, single submitter | clinical testing | ||
Invitae | RCV001384636 | SCV001584207 | pathogenic | Fanconi anemia | 2020-01-16 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in FANCC are known to be pathogenic (PMID: 17924555). This variant has not been reported in the literature in individuals with FANCC-related conditions. ClinVar contains an entry for this variant (Variation ID: 558692). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln3Serfs*9) in the FANCC gene. It is expected to result in an absent or disrupted protein product. |