Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000493558 | SCV000582389 | pathogenic | not provided | 2015-09-16 | criteria provided, single submitter | clinical testing | The W236X variant has been reported previously in association with X-linked adrenal hypoplasia congenita (AHC) (Holzinger et al., 2008). It is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Therefore, this variant is interpreted as pathogenic. |
Fulgent Genetics, |
RCV000763207 | SCV000893829 | pathogenic | Congenital adrenal hypoplasia, X-linked; 46,XY sex reversal 2 | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Clinical Molecular Genetics Laboratory, |
RCV000584087 | SCV000692283 | pathogenic | Congenital adrenal hypoplasia, X-linked | 2014-05-14 | no assertion criteria provided | clinical testing | |
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, |
RCV000584087 | SCV001482336 | pathogenic | Congenital adrenal hypoplasia, X-linked | 2019-05-31 | no assertion criteria provided | research |