Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department of Otolaryngology – Head & Neck Surgery, |
RCV001375244 | SCV001572042 | uncertain significance | Hearing impairment | 2021-04-12 | criteria provided, single submitter | clinical testing | PM2_Supporting, BP4_Supporting |
Invitae | RCV001871969 | SCV002196810 | likely benign | not provided | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001871969 | SCV003194959 | uncertain significance | not provided | 2023-01-18 | criteria provided, single submitter | clinical testing | 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 |