Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000727064 | SCV000705302 | uncertain significance | not provided | 2017-01-05 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000595479 | SCV000725866 | likely benign | not specified | 2017-12-20 | 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 | RCV001078830 | SCV001085023 | likely benign | Walker-Warburg congenital muscular dystrophy | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001078830 | SCV002078749 | likely benign | Walker-Warburg congenital muscular dystrophy | 2020-07-09 | no assertion criteria provided | clinical testing |