Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000125057 | SCV000168497 | benign | not specified | 2014-01-11 | 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. |
Prevention |
RCV000125057 | SCV000308621 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Ambry Genetics | RCV002310699 | SCV000317898 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2014-12-17 | 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 | RCV000472719 | SCV000563016 | likely benign | Congenital contractural arachnodactyly | 2024-01-13 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000512798 | SCV000603677 | benign | not provided | 2023-10-09 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000512798 | SCV000609173 | likely benign | not provided | 2021-10-01 | criteria provided, single submitter | clinical testing | |
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000472719 | SCV000745428 | likely benign | Congenital contractural arachnodactyly | 2017-06-28 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV000472719 | SCV000745933 | likely benign | Congenital contractural arachnodactyly | 2017-09-29 | no assertion criteria provided | clinical testing | |
Genome Diagnostics Laboratory, |
RCV000512798 | SCV001927059 | likely benign | not provided | no assertion criteria provided | clinical testing |