Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001483030 | SCV001687411 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-03-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002449277 | SCV002753825 | likely benign | Cardiovascular phenotype | 2021-05-03 | 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. |
Ce |
RCV003434269 | SCV004161034 | likely benign | not provided | 2022-08-01 | criteria provided, single submitter | clinical testing | FLNC: BP4, BP7 |