Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV001253189 | SCV001428782 | likely pathogenic | Charcot-Marie-Tooth disease X-linked dominant 1 | 2019-08-26 | criteria provided, single submitter | clinical testing | This variant was identified as hemizygous |