Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001698036 | SCV000726201 | likely benign | not provided | 2020-12-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002315932 | SCV000848714 | benign | Familial thoracic aortic aneurysm and aortic dissection | 2018-12-13 | criteria provided, single submitter | clinical testing | This alteration is classified as 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 | RCV000869972 | SCV001011437 | benign | Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia | 2023-12-27 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001698036 | SCV001474379 | likely benign | not provided | 2021-11-09 | criteria provided, single submitter | clinical testing |