Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Immunology and Genetics Kaiserslautern | RCV004771586 | SCV005382170 | uncertain significance | Rubinstein-Taybi syndrome due to CREBBP mutations; Menke-Hennekam syndrome 1 | 2024-09-13 | criteria provided, single submitter | clinical testing | ACMG Criteria: PM2_P, PP3; Variant was found in heterozygous state |