Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000504014 | SCV000594794 | likely benign | not specified | 2016-06-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000640773 | SCV000762372 | likely benign | Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia | 2023-09-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002316436 | SCV000849975 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2016-06-02 | 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. |