Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Immunology and Genetics Kaiserslautern | RCV003517267 | SCV004363637 | likely pathogenic | Charcot-Marie-Tooth disease X-linked dominant 1 | 2024-02-09 | criteria provided, single submitter | clinical testing | ACMG Criteria: PP3, PM1, PM2, PM5, Variant was found in heterozygous state |
Inherited Neuropathy Consortium | RCV000789920 | SCV000929305 | uncertain significance | Charcot-Marie-Tooth disease | no assertion criteria provided | literature only |