Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001018585 | SCV001179840 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-06-15 | criteria provided, single submitter | clinical testing | The c.897G>A variant (also known as p.R299R) is located in exon 9 of the FANCC gene. This variant results from a G to A substitution at nucleotide position 897. This nucleotide substitution does not change the arginine at codon 299. This change occurs in the first base pair of coding exon 9. This nucleotide position is highly conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to weaken the native splice acceptor site; however, direct experimental evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Natera, |
RCV001827195 | SCV002081203 | uncertain significance | Fanconi anemia | 2020-02-21 | no assertion criteria provided | clinical testing |