Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000246015 | SCV000319565 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2015-04-20 | 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. |
Illumina Laboratory Services, |
RCV000246015 | SCV000440355 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000474087 | SCV000560687 | benign | Aortic aneurysm, familial thoracic 7 | 2024-01-18 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV000246015 | SCV000900731 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2016-07-05 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001552310 | SCV001772977 | likely benign | not provided | 2021-08-26 | criteria provided, single submitter | clinical testing | |
Phosphorus, |
RCV001823721 | SCV002073468 | likely benign | not specified | 2022-01-17 | criteria provided, single submitter | clinical testing | This synonymous variant has an entry in ClinVar (263976) NM_053025.4 (MYLK): c.24C>G (p.Ala8=) and has occurred in GnomAD with a total MAF of 0.0614% and highest MAF of 0.8496% in the African population. This position is not conserved. In silico splicing algorithm was unavailable, however it is not predicted to impact splicing due to its distance from the splice site. No functional studies were performed to confirm this prediction. The variant has not occurred in literature associated with disease. Considering the above evidence, this variant has been classified as Likely Benign. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001823721 | SCV004029800 | benign | not specified | 2023-07-21 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001552310 | SCV004563980 | benign | not provided | 2023-09-22 | criteria provided, single submitter | clinical testing |