Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002310722 | SCV000212671 | likely benign | Familial thoracic aortic aneurysm and aortic dissection; Hereditary cancer-predisposing syndrome | 2014-12-12 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: 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. |
Counsyl | RCV000409431 | SCV000489157 | likely benign | Generalized juvenile polyposis/juvenile polyposis coli | 2016-08-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000438148 | SCV000514701 | benign | not specified | 2015-03-19 | 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 | RCV001507225 | SCV000556149 | benign | Juvenile polyposis syndrome | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000162365 | SCV000686511 | likely benign | Hereditary cancer-predisposing syndrome | 2016-03-17 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000679583 | SCV000806687 | likely benign | not provided | 2017-01-10 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000679583 | SCV001134821 | benign | not provided | 2023-03-16 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000438148 | SCV001737835 | benign | not specified | 2021-05-23 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000438148 | SCV002067409 | likely benign | not specified | 2019-07-01 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000162365 | SCV002538290 | benign | Hereditary cancer-predisposing syndrome | 2022-03-02 | criteria provided, single submitter | curation | |
Myriad Genetics, |
RCV003315970 | SCV004017786 | benign | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | 2023-04-10 | criteria provided, single submitter | clinical testing | This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing. |