Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001186118 | SCV001352462 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-02-27 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV001186118 | SCV002528794 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-03-12 | criteria provided, single submitter | curation | |
Ambry Genetics | RCV001186118 | SCV002690099 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-02-07 | criteria provided, single submitter | clinical testing | The p.S332G variant (also known as c.994A>G), located in coding exon 11 of the MLH1 gene, results from an A to G substitution at nucleotide position 994. The serine at codon 332 is replaced by glycine, an amino acid with similar properties. This amino acid position is conserved. 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. |