Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000050222 | SCV000790567 | pathogenic | Deficiency of steroid 11-beta-monooxygenase | 2017-03-29 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000711392 | SCV000841755 | pathogenic | not provided | 2017-10-11 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000763178 | SCV000893776 | pathogenic | Deficiency of steroid 11-beta-monooxygenase; Hyperaldosteronism, familial, type I | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000711392 | SCV000957759 | pathogenic | not provided | 2019-08-26 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln356*) in the CYP11B1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs146124466, ExAC 0.09%). This variant has been observed in the homozygous or compound heterozygous state in several individuals with CYP11B1-related conditions (PMID: 8506298, 27821898, 24022297, 12966519). ClinVar contains an entry for this variant (Variation ID: 56830). Loss-of-function variants in CYP11B1 are known to be pathogenic (PMID: 8506298, 26476331). For these reasons, this variant has been classified as Pathogenic. |
Pediatric Endocrinology Laboratory; Christian Albrechts University of Kiel | RCV000050222 | SCV000082801 | not provided | Deficiency of steroid 11-beta-monooxygenase | no assertion provided | not provided |