Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000554561 | SCV000639808 | benign | Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia | 2023-11-10 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001697026 | SCV000732819 | likely benign | not provided | 2020-11-06 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002314984 | SCV000739066 | benign | Familial thoracic aortic aneurysm and aortic dissection | 2016-07-28 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |