Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002167857 | SCV002339540 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-12-09 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003886555 | SCV004703543 | likely benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | FLNC: BP4 |
Ambry Genetics | RCV004045033 | SCV005017866 | likely benign | Cardiovascular phenotype | 2024-03-05 | 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. |