Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002311145 | SCV000320239 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2015-09-14 | 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. |
Gene |
RCV000418632 | SCV000520107 | benign | not provided | 2021-08-17 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 26582918) |
Invitae | RCV000867214 | SCV001008414 | benign | Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia | 2023-12-02 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000418632 | SCV002050219 | likely benign | not provided | 2021-11-30 | criteria provided, single submitter | clinical testing |