Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000080292 | SCV000112187 | benign | not specified | 2015-04-24 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000080292 | SCV000309691 | benign | not specified | 2016-01-21 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000080292 | SCV000519400 | benign | not specified | 2016-02-10 | 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 | RCV002055166 | SCV002384573 | benign | Qualitative or quantitative defects of dysferlin | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Laboratory of Diagnostic Genome Analysis, |
RCV000080292 | SCV001797327 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV001699033 | SCV001922880 | likely benign | not provided | no assertion criteria provided | clinical testing |