Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV001196294 | SCV001366874 | uncertain significance | Congenital myotonia, autosomal recessive form | 2019-09-06 | criteria provided, single submitter | clinical testing | This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2,BP4. |
Labcorp Genetics |
RCV003770202 | SCV004579323 | likely benign | Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form | 2023-10-14 | criteria provided, single submitter | clinical testing |