Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002442402 | SCV002677480 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-12-30 | criteria provided, single submitter | clinical testing | The p.D2821N variant (also known as c.8461G>A), located in coding exon 15 of the APC gene, results from a G to A substitution at nucleotide position 8461. The aspartic acid at codon 2821 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is not well 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. |
3DMed Clinical Laboratory Inc | RCV000677770 | SCV000803926 | uncertain significance | Intrahepatic cholangiocarcinoma | 2017-11-22 | no assertion criteria provided | clinical testing |