Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000150322 | SCV000197412 | pathogenic | Rare genetic deafness | 2013-08-29 | criteria provided, single submitter | clinical testing | The 7873-2A>T variant in CDH23 has not been reported in individuals with hearing loss and is absent in large population studies. This variant occurs in the inva riant region (+/- 1/2) of the splice consensus sequence and is predicted to caus e altered splicing leading to an abnormal or absent protein. In summary, this va riant meets our criteria to be classified as pathogenic (http://pcpgm.partners.o rg/LMM). |