Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002318236 | SCV000851517 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2017-01-26 | 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 | RCV001474561 | SCV001678732 | likely benign | Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia | 2021-02-11 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000872344 | SCV001982349 | likely benign | not provided | 2021-02-24 | criteria provided, single submitter | clinical testing |