Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002311129 | SCV000320156 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2015-09-06 | 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. |
Gene |
RCV001705396 | SCV000513062 | likely benign | not provided | 2021-11-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000640805 | SCV000762404 | likely benign | Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001820796 | SCV002066096 | likely benign | not specified | 2018-06-05 | criteria provided, single submitter | clinical testing |