Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000429234 | SCV000533799 | likely benign | not specified | 2016-11-11 | 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 | RCV000874316 | SCV001016474 | likely benign | Qualitative or quantitative defects of dysferlin | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001726175 | SCV001962261 | likely benign | not provided | 2021-07-01 | criteria provided, single submitter | clinical testing |