Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Medical Genetics, |
RCV003883249 | SCV004697547 | likely pathogenic | Congenital myotonia, autosomal recessive form | 2024-02-20 | criteria provided, single submitter | clinical testing |