Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000593047 | SCV000704350 | uncertain significance | not provided | 2016-12-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000593047 | SCV000984079 | likely benign | not provided | 2018-04-19 | 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. |
Labcorp Genetics |
RCV001087712 | SCV001064221 | likely benign | Qualitative or quantitative defects of dysferlin | 2024-02-13 | criteria provided, single submitter | clinical testing |