Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
UCLA Clinical Genomics Center, |
RCV000199225 | SCV000255349 | likely pathogenic | Osteogenesis imperfecta with normal sclerae, dominant form; Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfecta type III | 2013-04-16 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002519576 | SCV000752620 | likely benign | Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 | 2023-07-24 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001589081 | SCV001815222 | uncertain significance | not provided | 2021-01-12 | criteria provided, single submitter | clinical testing | Has been reported as a maternally inherited likely pathogenic variant in a patient with clinical features of osteogenesis imperfecta (Lee et al., 2014); Occurs in the triple helical domain at the X position in the canonical Gly-X-Y repeat. Although this variant may have an effect on normal protein folding and function, missense substitution at the X position is not a common mechanism of disease (Stenson et al., 2014); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Reported in ClinVar with conflicting classifications, but additional evidence is not available (ClinVar Variant ID# 216909; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 25326637) |
Genome Diagnostics Laboratory, |
RCV002277551 | SCV002564789 | uncertain significance | Osteogenesis imperfecta | 2021-06-25 | criteria provided, single submitter | clinical testing |