Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV000487467 | SCV000574559 | pathogenic | not provided | 2017-01-25 | criteria provided, single submitter | clinical testing | deletion comprises the MED13L gene that is associated with the MED13L haploinsufficiency syndrome (OMIM # 616789) |