Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000862243 | SCV000723084 | likely benign | not provided | 2018-05-23 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000619044 | SCV000736425 | likely benign | Cardiovascular phenotype | 2017-06-16 | 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. |
Invitae | RCV001448677 | SCV001651774 | likely benign | Desmin-related myofibrillar myopathy | 2021-11-20 | criteria provided, single submitter | clinical testing |