Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Revvity Omics, |
RCV001781159 | SCV002018095 | pathogenic | not provided | 2021-01-15 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV002247232 | SCV002519465 | pathogenic | Glucocorticoid-remediable aldosteronism | 2022-05-04 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002496224 | SCV002811722 | likely pathogenic | Deficiency of steroid 11-beta-monooxygenase; Glucocorticoid-remediable aldosteronism | 2022-03-27 | criteria provided, single submitter | clinical testing | |
3billion | RCV000001237 | SCV003841758 | likely pathogenic | Deficiency of steroid 11-beta-monooxygenase | 2023-02-23 | criteria provided, single submitter | clinical testing | The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: <0.001%). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.77; 3Cnet: 0.77). Same nucleotide change resulting in same amino acid change has been previously reported to be associated with CYP11B1 related disorder (ClinVar ID: VCV000001178 / PMID: 9302260). The variant has been reported to be in trans with a pathogenic variant as either compound heterozygous or homozygous in at least one similarly affected unrelated individual (PMID: 9302260). Therefore, this variant is classified as Likely pathogenic according to the recommendation of ACMG/AMP guideline. |
Baylor Genetics | RCV000001237 | SCV004215334 | likely pathogenic | Deficiency of steroid 11-beta-monooxygenase | 2024-02-20 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000001237 | SCV000021387 | pathogenic | Deficiency of steroid 11-beta-monooxygenase | 1997-10-01 | no assertion criteria provided | literature only |