Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Immunology and Genetics Kaiserslautern | RCV003529921 | SCV004363630 | likely pathogenic | Nicolaides-Baraitser syndrome | 2024-02-02 | criteria provided, single submitter | clinical testing | ACMG Criteria: PM2, PP3, PM1, PS2; Variant was found in heterozygous state |