Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Human Genetics, |
RCV001730489 | SCV001762967 | pathogenic | Bilateral sensorineural hearing impairment | criteria provided, single submitter | research | in compound heterozygosis with a likely pathogenic missense variant in a patient with HL | |
Gene |
RCV000056032 | SCV000087092 | not provided | Autosomal recessive nonsyndromic hearing loss 9 | no assertion provided | literature only |