Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000220037 | SCV000274971 | likely benign | Hereditary cancer-predisposing syndrome | 2015-04-07 | 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 | RCV000464611 | SCV000561459 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-11-29 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000220037 | SCV000904834 | likely benign | Hereditary cancer-predisposing syndrome | 2018-08-14 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000220037 | SCV002535620 | likely benign | Hereditary cancer-predisposing syndrome | 2021-12-17 | criteria provided, single submitter | curation | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV003477728 | SCV004221143 | uncertain significance | not provided | 2023-01-09 | criteria provided, single submitter | clinical testing | To the best of our knowledge, the variant has not been reported 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, |
RCV003997888 | SCV004827997 | likely benign | Lynch syndrome | 2023-06-15 | criteria provided, single submitter | clinical testing |