Total submissions: 7
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000410753 | SCV000489307 | likely benign | Colorectal cancer, hereditary nonpolyposis, type 2 | 2016-09-14 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV000419663 | SCV000513629 | benign | not specified | 2015-06-17 | 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. |
| Invitae | RCV000475237 | SCV000555979 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2024-01-24 | criteria provided, single submitter | clinical testing | |
| Color Diagnostics, |
RCV000584327 | SCV000689834 | likely benign | Hereditary cancer-predisposing syndrome | 2017-10-06 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000419663 | SCV000919652 | uncertain significance | not specified | 2018-01-02 | criteria provided, single submitter | clinical testing | Variant summary: The MLH1 c.1731+8T>C variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 3/245974 control chromosomes at a frequency of 0.0000122, which does not exceed the estimated maximal expected allele frequency of a pathogenic MLH1 variant (0.0007105). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a VUS-possibly benign, until additional information becomes available. |
| Myriad Genetics, |
RCV000410753 | SCV004020238 | benign | Colorectal cancer, hereditary nonpolyposis, type 2 | 2023-03-10 | criteria provided, single submitter | clinical testing | This variant is considered benign. This variant has been observed in trans with a known pathogenic variant in one or more individuals lacking clinical features consistent with gene-specific recessive disease. |
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV003477908 | SCV004220081 | likely benign | not provided | 2023-09-07 | criteria provided, single submitter | clinical testing |