Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV004698616 | SCV005200149 | uncertain significance | Hearing impairment | no assertion criteria provided | clinical testing | Predicted effect on splicing not confirmed with minigene assay |