Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000244419 | SCV000307979 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000244419 | SCV000724470 | likely benign | not specified | 2017-11-09 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV002058061 | SCV002411020 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV000244419 | SCV001923866 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV001702390 | SCV001929945 | likely benign | not provided | no assertion criteria provided | clinical testing |