Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV003423807 | SCV004161238 | uncertain significance | not provided | 2023-09-01 | criteria provided, single submitter | clinical testing | CLCN1: PM2, PM3:Supporting |
Laboratory of Medical Genetics, |
RCV003883216 | SCV004697546 | uncertain significance | Congenital myotonia, autosomal recessive form | 2024-02-20 | criteria provided, single submitter | clinical testing |