Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000541576 | SCV000650551 | benign | Aortic aneurysm, familial thoracic 7 | 2024-01-06 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000733357 | SCV000861419 | likely benign | not specified | 2018-06-06 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002330938 | SCV002629542 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2018-08-08 | 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. |
Prevention |
RCV003905420 | SCV004719933 | likely benign | MYLK-related condition | 2019-08-07 | 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). |