Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000550654 | SCV000649690 | likely benign | Qualitative or quantitative defects of dysferlin | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000616833 | SCV000719812 | likely benign | not specified | 2017-06-02 | 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. |