Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000534286 | SCV000650542 | likely benign | Aortic aneurysm, familial thoracic 7 | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001579511 | SCV000716266 | likely benign | not provided | 2021-09-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001170119 | SCV000739310 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2017-07-11 | 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. |
CHEO Genetics Diagnostic Laboratory, |
RCV001170119 | SCV001332658 | benign | Familial thoracic aortic aneurysm and aortic dissection | 2018-05-25 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV004586784 | SCV005076009 | benign | not specified | 2024-04-29 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV001579511 | SCV001807508 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001579511 | SCV001953323 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Prevention |
RCV003945285 | SCV004761840 | likely benign | MYLK-related disorder | 2021-05-04 | no assertion criteria provided | 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). |