Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Testing Center for Deafness, |
RCV001290151 | SCV001478209 | likely pathogenic | Waardenburg syndrome type 2A | 2019-01-01 | criteria provided, single submitter | clinical testing | |
Deafness Molecular Diagnostic Center, |
RCV001290151 | SCV001763642 | likely pathogenic | Waardenburg syndrome type 2A | no assertion criteria provided | case-control |