Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001422530 | SCV001625083 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2022-10-19 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV002265911 | SCV002547887 | likely benign | not specified | 2022-05-05 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002409244 | SCV002718178 | likely benign | Hereditary cancer-predisposing syndrome | 2021-03-16 | 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. |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV003478591 | SCV004221162 | uncertain significance | not provided | 2023-02-22 | criteria provided, single submitter | clinical testing | To the best of our knowledge, the variant has not been reported in individuals with MSH6-related conditions in the published literature. It also has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). Analysis of this variant using software algorithms for the prediction of the effect of nucleotide changes on splicing yielded predictions that this variant does not affect MSH6 mRNA splicing . Based on the available information, we are unable to determine the clinical significance of this variant. |
All of Us Research Program, |
RCV004004320 | SCV004835545 | likely benign | Lynch syndrome | 2023-10-02 | criteria provided, single submitter | clinical testing |