Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute Of Human Genetics Munich, |
RCV000011422 | SCV001149805 | pathogenic | Intellectual disability, X-linked syndromic, Turner type | 2020-01-16 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000999458 | SCV001156071 | pathogenic | not provided | 2022-12-01 | criteria provided, single submitter | clinical testing | HUWE1: PS2, PM2, PS4:Moderate, PP2, PP3 |
Laboratory of Molecular Genetics |
RCV000999458 | SCV001334346 | likely pathogenic | not provided | 2020-02-10 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000011422 | SCV000031654 | pathogenic | Intellectual disability, X-linked syndromic, Turner type | 2008-02-01 | no assertion criteria provided | literature only |