Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000607562 | SCV000725421 | likely benign | not specified | 2017-11-28 | 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 |
RCV001486610 | SCV001691070 | likely benign | Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form | 2021-11-27 | criteria provided, single submitter | clinical testing |