Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001766458 | SCV002000173 | uncertain significance | not provided | 2020-11-02 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Prevention |
RCV003420197 | SCV004109875 | uncertain significance | GJB2-related condition | 2022-11-22 | criteria provided, single submitter | clinical testing | The GJB2 c.560A>G variant is predicted to result in the amino acid substitution p.Glu187Gly. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |
Clinical Molecular Genetics Laboratory, |
RCV000678890 | SCV000805083 | uncertain significance | Hearing loss | 2012-01-04 | no assertion criteria provided | clinical testing |