Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000200814 | SCV000250106 | likely benign | not specified | 2014-05-21 | 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 | RCV000693997 | SCV000822421 | likely benign | Congenital contractural arachnodactyly | 2023-11-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002345459 | SCV002622658 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2018-05-31 | 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. |
OMIM | RCV000148949 | SCV000195869 | pathogenic | Macular degeneration, early-onset | 2014-11-01 | no assertion criteria provided | literature only |