Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002232800 | SCV000762388 | likely benign | Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia | 2023-11-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002343274 | SCV002623202 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2021-11-14 | 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. |
Wang |
RCV001822861 | SCV001762504 | uncertain significance | Frontometaphyseal dysplasia 1 | 2021-07-01 | no assertion criteria provided | clinical testing |