Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001240665 | SCV001413633 | likely benign | Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001587269 | SCV001815200 | uncertain significance | not provided | 2020-08-31 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |