Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001079303 | SCV000625024 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-11-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000562002 | SCV000662399 | likely benign | Hereditary cancer-predisposing syndrome | 2016-07-25 | 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. |
Color Diagnostics, |
RCV000562002 | SCV000690491 | likely benign | Hereditary cancer-predisposing syndrome | 2015-06-15 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000781580 | SCV000919741 | likely benign | not specified | 2019-08-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000827332 | SCV000968971 | likely benign | not provided | 2018-05-14 | 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. |
Sema4, |
RCV000562002 | SCV002536370 | likely benign | Hereditary cancer-predisposing syndrome | 2022-02-27 | criteria provided, single submitter | curation | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000827332 | SCV004222066 | uncertain significance | not provided | 2023-05-09 | 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, |
RCV004003707 | SCV004834945 | likely benign | Lynch syndrome | 2023-06-08 | criteria provided, single submitter | clinical testing |