Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Prof. |
RCV001250407 | SCV001337667 | likely pathogenic | Hearing loss, autosomal recessive | 2019-07-06 | no assertion criteria provided | research | Recessive, compound heterozygous with NM_001354587.1: c.2479(-1)G>A; congenital, moderate-severe progressive SNHL |