Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000079862 | SCV000111745 | benign | not specified | 2012-11-02 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000079862 | SCV000308275 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000079862 | SCV000730890 | benign | not specified | 2016-03-01 | 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 | RCV002055144 | SCV002404201 | benign | Bethlem myopathy 1 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Laboratory of Diagnostic Genome Analysis, |
RCV000838559 | SCV001799709 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000079862 | SCV001917716 | benign | not specified | no assertion criteria provided | clinical testing |