Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000708968 | SCV000838127 | uncertain significance | Familial adenomatous polyposis 1 | 2018-07-02 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001824870 | SCV002074356 | uncertain significance | not specified | 2022-01-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002343579 | SCV002645519 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-01-27 | criteria provided, single submitter | clinical testing | The p.G1674R variant (also known as c.5020G>A), located in coding exon 15 of the APC gene, results from a G to A substitution at nucleotide position 5020. The glycine at codon 1674 is replaced by arginine, an amino acid with dissimilar 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. |
Baylor Genetics | RCV000708968 | SCV004196489 | uncertain significance | Familial adenomatous polyposis 1 | 2023-10-15 | criteria provided, single submitter | clinical testing |