Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000865584 | SCV001006575 | likely benign | X-linked Emery-Dreifuss muscular dystrophy | 2023-12-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002352530 | SCV002647661 | likely benign | Cardiovascular phenotype | 2019-02-17 | 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. |
Natera, |
RCV001279591 | SCV001466693 | likely benign | Emery-Dreifuss muscular dystrophy | 2020-07-27 | no assertion criteria provided | clinical testing |