Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000164766 | SCV000215442 | likely benign | Hereditary cancer-predisposing syndrome | 2014-07-11 | 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. |
Gene |
RCV000443070 | SCV000513698 | benign | not specified | 2015-08-04 | 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. |
Invitae | RCV001087767 | SCV000624842 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2024-01-10 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000164766 | SCV000685386 | likely benign | Hereditary cancer-predisposing syndrome | 2016-05-22 | criteria provided, single submitter | clinical testing | |
University of Washington Department of Laboratory Medicine, |
RCV000758625 | SCV000887382 | likely benign | Lynch syndrome | 2018-05-01 | criteria provided, single submitter | clinical testing | MSH6 NM_000179.2:c.3300G>A has a 1.6% probability of pathogenicity based on combining prior probability from public data with likelihood ratios of 1.56 and 0.20 to 1, generated from evidence of seeing this as a somatic mutation in two independent tumors without loss of heterozygosity at the MSH6 locus. See Shirts et al 2018, PMID 29887214. |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000759142 | SCV000888271 | benign | not provided | 2018-08-23 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000759142 | SCV000892560 | likely benign | not provided | 2018-08-01 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000986733 | SCV001135837 | likely benign | Lynch syndrome 5 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000164766 | SCV002528007 | likely benign | Hereditary cancer-predisposing syndrome | 2021-01-01 | criteria provided, single submitter | curation | |
Prevention |
RCV004535103 | SCV004714129 | likely benign | MSH6-related disorder | 2021-02-05 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
All of Us Research Program, |
RCV000758625 | SCV004835042 | likely benign | Lynch syndrome | 2023-12-01 | criteria provided, single submitter | clinical testing |