Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000079696 | SCV000111579 | uncertain significance | not provided | 2012-09-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002228211 | SCV000639790 | likely benign | Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia | 2023-08-14 | criteria provided, single submitter | clinical testing | |
Center for Human Genetics, |
RCV000680538 | SCV000807948 | likely benign | Connective tissue disorder | 2018-06-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000079696 | SCV001783327 | likely benign | not provided | 2020-07-13 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002326796 | SCV002627779 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2018-12-10 | 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. |