Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001010693 | SCV001170926 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-11-18 | criteria provided, single submitter | clinical testing | The p.L425P variant (also known as c.1274T>C), located in coding exon 12 of the FANCC gene, results from a T to C substitution at nucleotide position 1274. The leucine at codon 425 is replaced by proline, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Natera, |
RCV001274614 | SCV001458898 | uncertain significance | Fanconi anemia complementation group C | 2020-01-24 | no assertion criteria provided | clinical testing |