Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV003482228 | SCV004229558 | pathogenic | not provided | 2022-10-27 | criteria provided, single submitter | clinical testing | This variant is expected to result in the loss of a functional protein. This variant appears to segregate with autosomal recessive nonsyndromic hearing loss and deafness in at least one family. This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). |
OMIM | RCV000018537 | SCV000038819 | pathogenic | Autosomal recessive nonsyndromic hearing loss 1A | 2000-01-01 | no assertion criteria provided | literature only |