Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000428194 | SCV000513011 | likely benign | not specified | 2017-10-30 | 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. |
Ambry Genetics | RCV002314143 | SCV000739006 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2017-02-27 | 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. |
Invitae | RCV000868116 | SCV001009413 | likely benign | Congenital contractural arachnodactyly | 2023-11-24 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001810888 | SCV001474190 | likely benign | not provided | 2020-04-14 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000428194 | SCV004038088 | benign | not specified | 2023-08-19 | criteria provided, single submitter | clinical testing |