Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000324210 | SCV000470011 | likely benign | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000611576 | SCV000729535 | benign | not specified | 2017-11-24 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
ARUP Laboratories, |
RCV001810863 | SCV001473705 | benign | not provided | 2023-11-22 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV002058674 | SCV002422440 | benign | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | 2025-02-03 | criteria provided, single submitter | clinical testing |