Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000484266 | SCV000569290 | likely pathogenic | not provided | 2016-05-31 | criteria provided, single submitter | clinical testing | This variant is denoted FANCC c.808A>T at the cDNA level and p.Arg270Ter (R270X) at the protein level. The substitution creates a nonsense variant, which changes an Arginine to a premature stop codon (AGA>TGA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Although this variant has not, to our knowledge, been reported in the literature, it is considered likely pathogenic. |
Counsyl | RCV000984174 | SCV001132189 | likely pathogenic | Fanconi anemia complementation group C | 2016-11-11 | no assertion criteria provided | clinical testing | |
Natera, |
RCV001835813 | SCV002081219 | likely pathogenic | Fanconi anemia | 2020-11-24 | no assertion criteria provided | clinical testing |