Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000248738 | SCV000308440 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000834405 | SCV000976174 | benign | not provided | 2018-03-20 | 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 | RCV000834405 | SCV001731093 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001660219 | SCV001876264 | benign | Epiphyseal dysplasia, multiple, 3 | 2021-07-30 | criteria provided, single submitter | clinical testing | |
Diagnostic Laboratory, |
RCV000248738 | SCV001741912 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000248738 | SCV001808940 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000248738 | SCV001953758 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000248738 | SCV002038280 | benign | not specified | no assertion criteria provided | clinical testing |