Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000517094 | SCV000612789 | benign | not specified | 2017-07-26 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000524844 | SCV000636329 | benign | Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000517094 | SCV000729934 | benign | not specified | 2016-02-16 | 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. |