Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003470762 | SCV000647648 | likely benign | Familial adenomatous polyposis 1 | 2023-10-23 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002358548 | SCV002655569 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-05-09 | criteria provided, single submitter | clinical testing | The p.P2170S variant (also known as c.6508C>T), located in coding exon 15 of the APC gene, results from a C to T substitution at nucleotide position 6508. The proline at codon 2170 is replaced by serine, an amino acid with similar properties. This amino acid position is 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. |
Baylor Genetics | RCV003470762 | SCV004204841 | uncertain significance | Familial adenomatous polyposis 1 | 2023-06-21 | criteria provided, single submitter | clinical testing |