Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Molecular Genetics, |
RCV000984796 | SCV000930664 | pathogenic | Hearing loss, autosomal recessive 111 | 2019-08-08 | no assertion criteria provided | research | Individual with NSHL carried compound heterozygous variants in MPZL2. AR NSHL had a characteristic of moderate and progressive hearing loss. Hearing impairment in the individual was a sporadic case in his family. |