Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000036457 | SCV000060112 | likely pathogenic | Rare genetic deafness | 2008-03-01 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000410723 | SCV000485564 | likely pathogenic | Pendred syndrome | 2016-01-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003324721 | SCV004030863 | pathogenic | not provided | 2023-02-22 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 28964290) |