Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000467673 | SCV000562360 | likely benign | Desmin-related myofibrillar myopathy | 2023-12-17 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001721540 | SCV000724642 | likely benign | not provided | 2018-12-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000617744 | SCV000736161 | likely benign | Cardiovascular phenotype | 2017-12-12 | 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. |