Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV003243033 | SCV000317341 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2023-04-13 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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 | RCV002518676 | SCV001008352 | likely benign | HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED | 2023-11-27 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003955397 | SCV004774995 | likely benign | CBS-related disorder | 2019-07-16 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Natera, |
RCV000867156 | SCV001455978 | likely benign | Classic homocystinuria | 2020-06-03 | no assertion criteria provided | clinical testing |