Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
National Institute of Sensory Organs, |
RCV000991283 | SCV001142662 | association | Hearing loss | 2019-09-10 | no assertion criteria provided | clinical testing | de novo variant, in vitro experiment |
OMIM | RCV001264770 | SCV001443073 | pathogenic | Hearing loss, autosomal dominant 78 | 2020-11-09 | no assertion criteria provided | literature only |