Total submissions: 8
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000212655 | SCV000211285 | uncertain significance | not provided | 2018-01-05 | criteria provided, single submitter | clinical testing | This variant is denoted MSH6 c.1974G>A at the DNA level. Although the variant is silent at the coding level, preserving a Valine at codon 658, multiple splicing models predict the creation of a novel cryptic splice site. However, in the absence of RNA or functional studies, the actual effect of this variant is unknown. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. MSH6 c.1974G>A was not observed at a significant allele frequency in large population cohorts (Lek 2016). The nucleotide which is altered, a guanine (G) at base 1974, is conserved in mammals. Based on currently available evidence, it is unclear whether MSH6 c.1974G>A is a pathogenic or benign variant. We consider it to be a variant of uncertain significance. |
| Ambry Genetics | RCV000160674 | SCV000214052 | likely benign | Hereditary cancer-predisposing syndrome | 2014-09-08 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
| Invitae | RCV001083661 | SCV000262029 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2024-01-31 | criteria provided, single submitter | clinical testing | |
| Color Diagnostics, |
RCV000160674 | SCV000910933 | likely benign | Hereditary cancer-predisposing syndrome | 2016-01-25 | criteria provided, single submitter | clinical testing | |
| Sema4, |
RCV000160674 | SCV002535687 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-01-03 | criteria provided, single submitter | curation | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV002271429 | SCV002555840 | likely benign | not specified | 2022-06-13 | criteria provided, single submitter | clinical testing | |
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000212655 | SCV004221166 | likely benign | not provided | 2023-04-24 | criteria provided, single submitter | clinical testing | |
| All of Us Research Program, |
RCV003998494 | SCV004838214 | likely benign | Lynch syndrome | 2024-02-05 | criteria provided, single submitter | clinical testing |