Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001576851 | SCV001804115 | likely pathogenic | not provided | 2019-07-23 | criteria provided, single submitter | clinical testing | Canonical splice site variant predicted to result in an in-frame deletion of the actin-binding region and part of the myosin motor domain; Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 31541171) |
Genetic Testing Center for Deafness, |
RCV000770847 | SCV000902348 | likely pathogenic | Autosomal recessive nonsyndromic hearing loss 2 | 2019-02-26 | no assertion criteria provided | case-control |