Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001011440 | SCV001171762 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-11-28 | criteria provided, single submitter | clinical testing | The p.Q473R variant (also known as c.1418A>G), located in coding exon 13 of the FANCC gene, results from an A to G substitution at nucleotide position 1418. The glutamine at codon 473 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Natera, |
RCV001273979 | SCV001457640 | uncertain significance | Fanconi anemia complementation group C | 2020-09-16 | no assertion criteria provided | clinical testing |