Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Prof. |
RCV001004796 | SCV001164283 | pathogenic | Autosomal recessive nonsyndromic hearing loss 77 | 2020-12-31 | criteria provided, single submitter | research | Recessive, compound heterozygous with NM_144612.6:c.4714C>T; Childhood onset, moderate-profound, progressive NSHL |