Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000502222 | SCV000594813 | uncertain significance | not specified | 2016-08-16 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000686436 | SCV000813954 | likely benign | Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia | 2024-01-15 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001549890 | SCV001770124 | likely benign | not provided | 2020-05-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002367689 | SCV002659062 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2017-10-04 | 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. |