Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000863518 | SCV001004196 | likely benign | Walker-Warburg congenital muscular dystrophy | 2024-01-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001585810 | SCV001820944 | likely benign | not provided | 2021-03-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002434076 | SCV002749827 | likely benign | Cardiovascular phenotype | 2021-08-16 | 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. |
Natera, |
RCV001275318 | SCV001460343 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2I | 2020-02-13 | no assertion criteria provided | clinical testing |