Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000605694 | SCV000715442 | likely benign | not specified | 2018-03-16 | 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. |
Labcorp Genetics |
RCV001414360 | SCV001616494 | likely benign | Congenital myopathy 4B, autosomal recessive; Congenital myopathy with fiber type disproportion | 2024-01-15 | criteria provided, single submitter | clinical testing |