Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000324298 | SCV000335700 | uncertain significance | not provided | 2015-10-12 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001088929 | SCV001007331 | likely benign | Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia | 2023-12-26 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000324298 | SCV001784277 | likely benign | not provided | 2021-05-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002365306 | SCV002663744 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2022-05-16 | 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. |