Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Hudson |
RCV001027872 | SCV001190508 | likely pathogenic | Menke-Hennekam syndrome 1 | 2020-02-04 | criteria provided, single submitter | research | |
Greenwood Genetic Center Diagnostic Laboratories, |
RCV001027872 | SCV002583787 | likely pathogenic | Menke-Hennekam syndrome 1 | 2022-07-27 | criteria provided, single submitter | clinical testing | PM1, PM2, PM5, PP2, PP3 |
Gharavi Laboratory, |
RCV000722632 | SCV000853763 | uncertain significance | not provided | 2018-09-16 | no assertion criteria provided | research |