Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000867227 | SCV001008428 | likely benign | Colorectal cancer, hereditary nonpolyposis, type 7 | 2025-01-23 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004027694 | SCV002752062 | uncertain significance | not specified | 2024-10-09 | criteria provided, single submitter | clinical testing | The p.I988M variant (also known as c.2964C>G), located in coding exon 1 of the MLH3 gene, results from a C to G substitution at nucleotide position 2964. The isoleucine at codon 988 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear. |
Fulgent Genetics, |
RCV005012388 | SCV005635773 | uncertain significance | Endometrial carcinoma; Colorectal cancer, hereditary nonpolyposis, type 7; Colorectal cancer | 2024-05-20 | criteria provided, single submitter | clinical testing |