Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Practice for Gait Abnormalities, |
RCV001312241 | SCV001500026 | likely pathogenic | Tip-toe gait | 2020-10-06 | criteria provided, single submitter | clinical testing | We conducted a clinical examination of patients about toe walking. PRX: c.1905A>C was found in a father and son who have similar clinical symptoms. We also examined a control group of children without toe walking (100 children). In this group this variant could not be identified. |