Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Human Genetics, |
RCV001730488 | SCV001762960 | likely pathogenic | Bilateral sensorineural hearing impairment | criteria provided, single submitter | research | in compound heterozygosis with another missense variant, both likely pathogenic in patient with auditory neuropathy | |
Gene |
RCV000056023 | SCV000087083 | not provided | Autosomal recessive nonsyndromic hearing loss 9 | no assertion provided | literature only |