Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000029649 | SCV000052301 | uncertain | Congenital adrenal hyperplasia | 2011-08-18 | criteria provided, single submitter | curation | Converted during submission to Uncertain significance. |
Athena Diagnostics | RCV000517998 | SCV000613042 | uncertain significance | not provided | 2020-03-19 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000665430 | SCV000789551 | uncertain significance | Deficiency of steroid 11-beta-monooxygenase | 2017-02-08 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002504827 | SCV002816677 | uncertain significance | Deficiency of steroid 11-beta-monooxygenase; Glucocorticoid-remediable aldosteronism | 2022-05-17 | criteria provided, single submitter | clinical testing | |
Clinical Biochemistry Laboratory, |
RCV000665430 | SCV004190265 | pathogenic | Deficiency of steroid 11-beta-monooxygenase | 2023-11-20 | criteria provided, single submitter | clinical testing | ACMG:PVS1 PM2 PM3 |
Baylor Genetics | RCV000665430 | SCV004215341 | likely pathogenic | Deficiency of steroid 11-beta-monooxygenase | 2024-03-18 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003952372 | SCV004770055 | likely pathogenic | CYP11B1-related disorder | 2023-11-06 | criteria provided, single submitter | clinical testing | The CYP11B1 c.799+5G>C variant is predicted to interfere with splicing. This variant was reported in the compound heterozygous state with a nonsense CYP11B1 variant in an individual with congenital adrenal hyperplasia due to 11-ß-hydroxylase deficiency (Andrew et al. 2007. PubMed ID: 17371482). This variant, along with a CYP11B1 nonsense variant, was also documented in an individual with congenital adrenal hyperplasia at PreventionGenetics (internal data). This variant is reported in 0.048% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/8-143958093-C-G). This variant is interpreted as likely pathogenic. |