Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000539553 | SCV000651135 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2024-01-05 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001591260 | SCV001816274 | likely benign | not provided | 2020-12-09 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002367922 | SCV002661800 | likely benign | Cardiovascular phenotype | 2020-05-11 | 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. |
Ce |
RCV001591260 | SCV004032767 | likely benign | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | FLNC: BP4, BP7 |