Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000734882 | SCV000863060 | uncertain significance | not provided | 2018-08-23 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000734882 | SCV000982645 | likely benign | not provided | 2018-03-22 | 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 | RCV001084419 | SCV001100665 | likely benign | Myofibrillar myopathy 3 | 2022-07-02 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV000734882 | SCV001929607 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000734882 | SCV001954727 | likely benign | not provided | no assertion criteria provided | clinical testing |