Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000516195 | SCV000613332 | uncertain significance | not specified | 2016-11-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002314899 | SCV000739081 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2022-04-21 | 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 | RCV002231200 | SCV000949937 | benign | Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia | 2023-12-30 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV001508977 | SCV001715433 | uncertain significance | not provided | 2019-05-20 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001508977 | SCV001779801 | likely benign | not provided | 2020-12-02 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |