Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV000773996 | SCV000907696 | likely benign | Hereditary cancer-predisposing syndrome | 2018-09-25 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000780474 | SCV000917747 | likely benign | not specified | 2019-08-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002067281 | SCV002410975 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-10-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000773996 | SCV002626102 | likely benign | Hereditary cancer-predisposing syndrome | 2017-10-10 | 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 | RCV003478463 | SCV004222024 | uncertain significance | not provided | 2022-11-01 | criteria provided, single submitter | clinical testing | To the best of our knowledge, the variant has not been reported in 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, |
RCV004001341 | SCV004835167 | likely benign | Lynch syndrome | 2023-05-08 | criteria provided, single submitter | clinical testing |