Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV001000491 | SCV001157380 | likely pathogenic | not specified | 2018-12-05 | criteria provided, single submitter | clinical testing | The p.Gly381fs variant has not been reported in the medical literature, gene specific variation databases, nor has it been previously identified by our laboratory. The c.1142delG variant creates a frameshift in the CDH23 protein at codon 381 in exon13/70 which results in a premature termination codon and is predicted to result in a truncated or absent protein product. It is absent from general population databases such as 1000 Genomes, NHLBI GO Exome Sequencing Project (ESP), and the Genome Aggregation Database (gnomAD). Altogether this variant is likely to be pathogenic |
Revvity Omics, |
RCV001809886 | SCV002016986 | pathogenic | not provided | 2020-09-10 | criteria provided, single submitter | clinical testing |