Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001417869 | SCV001620075 | likely benign | Ehlers-Danlos syndrome, type 4 | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001524032 | SCV001733790 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2020-09-28 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV001417869 | SCV004824792 | likely benign | Ehlers-Danlos syndrome, type 4 | 2023-12-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001524032 | SCV005032290 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2022-12-25 | 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. |
Ce |
RCV004597997 | SCV005093605 | likely benign | not provided | 2024-07-01 | criteria provided, single submitter | clinical testing | COL3A1: BP4, BP7 |
Prevention |
RCV004540286 | SCV004772875 | likely benign | COL3A1-related disorder | 2019-05-01 | 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). |