Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000556853 | SCV000651125 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-11-06 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV001662581 | SCV001879771 | likely benign | not specified | 2020-12-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002367917 | SCV002666214 | likely benign | Cardiovascular phenotype | 2022-07-27 | 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. |