Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000488026 | SCV000575424 | likely pathogenic | not provided | 2016-10-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000488026 | SCV001168748 | likely pathogenic | not provided | 2018-07-30 | criteria provided, single submitter | clinical testing | The c.880_890del11 variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It causes a frameshift starting with codon Phenylalanine 294, changes this amino acid to an Arginine residue and creates a premature Stop codon at position 17 of the new reading frame, denoted p.Phe294ArgfsX17. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We consider this variant to be likely pathogenic. |
Department of Otolaryngology – Head & Neck Surgery, |
RCV001375257 | SCV001571735 | likely pathogenic | Hearing impairment | 2021-04-12 | criteria provided, single submitter | clinical testing | PVS1_Strong, PM2_Moderate, PM3_Supporting |