Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000700689 | SCV000829456 | likely benign | Colorectal cancer, hereditary nonpolyposis, type 7 | 2023-05-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004026523 | SCV002687445 | uncertain significance | not specified | 2024-11-23 | criteria provided, single submitter | clinical testing | The p.R297W variant (also known as c.889C>T), located in coding exon 1 of the MLH3 gene, results from a C to T substitution at nucleotide position 889. The arginine at codon 297 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is highly conserved through mammals but not in all available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Fulgent Genetics, |
RCV005010708 | SCV005633323 | uncertain significance | Endometrial carcinoma; Colorectal cancer, hereditary nonpolyposis, type 7; Colorectal cancer | 2024-04-08 | criteria provided, single submitter | clinical testing |