Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000725581 | SCV000337916 | uncertain significance | not provided | 2015-12-04 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000310275 | SCV000526026 | likely benign | not specified | 2016-04-01 | 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 | RCV001088913 | SCV001029832 | likely benign | Qualitative or quantitative defects of dysferlin | 2023-12-30 | criteria provided, single submitter | clinical testing |