Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000339337 | SCV000343366 | uncertain significance | not provided | 2016-06-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000617379 | SCV000735978 | likely benign | Cardiovascular phenotype | 2017-09-01 | 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 | RCV001431773 | SCV001634532 | likely benign | Desmin-related myofibrillar myopathy | 2023-11-28 | criteria provided, single submitter | clinical testing |