Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000292844 | SCV000337969 | uncertain significance | not provided | 2015-12-24 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001078951 | SCV000773409 | likely benign | Desmin-related myofibrillar myopathy | 2023-11-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002429223 | SCV002680936 | likely benign | Cardiovascular phenotype | 2019-05-30 | 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. |