Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000433858 | SCV000528235 | likely benign | not specified | 2018-03-06 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Labcorp Genetics |
RCV000557091 | SCV000625144 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-10-09 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000580041 | SCV000684816 | likely benign | Hereditary cancer-predisposing syndrome | 2016-06-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000580041 | SCV001179591 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-07-19 | criteria provided, single submitter | clinical testing | The c.306+3A>G intronic variant results from an A to G substitution 3 nucleotides after coding exon 3 in the MLH1 gene. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. RNA studies have demonstrated that this alteration results in an incomplete splice defect; the clinical impact of this abnormal splicing is unknown at this time (Ambry internal data). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |