Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004521144 | SCV005037195 | uncertain significance | not specified | 2024-02-06 | criteria provided, single submitter | clinical testing | The p.K664E variant (also known as c.1990A>G), located in coding exon 1 of the MLH3 gene, results from an A to G substitution at nucleotide position 1990. The lysine at codon 664 is replaced by glutamic acid, 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. Based on the available evidence, the clinical significance of this alteration remains unclear. |
Fulgent Genetics, |
RCV005006431 | SCV005635788 | uncertain significance | Endometrial carcinoma; Colorectal cancer, hereditary nonpolyposis, type 7; Colorectal cancer | 2024-01-22 | criteria provided, single submitter | clinical testing |