Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000205167 | SCV000260253 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2024-01-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001284648 | SCV000523785 | likely benign | not provided | 2021-01-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000571731 | SCV000662023 | likely benign | Hereditary cancer-predisposing syndrome | 2014-11-18 | 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000445067 | SCV000696171 | likely benign | not specified | 2019-08-29 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000571731 | SCV000911475 | likely benign | Hereditary cancer-predisposing syndrome | 2017-11-01 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001284648 | SCV001470539 | likely benign | not provided | 2019-12-05 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000571731 | SCV002528751 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-07-18 | criteria provided, single submitter | curation | |
Prevention |
RCV003897445 | SCV004714092 | likely benign | MLH1-related disorder | 2023-02-13 | 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, |
RCV003997605 | SCV004835299 | likely benign | Lynch syndrome | 2023-12-18 | criteria provided, single submitter | clinical testing |