Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000988416 | SCV001138129 | benign | PTEN hamartoma tumor syndrome | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Institute for Medical Genetics and Human Genetics, |
RCV003330095 | SCV004037182 | uncertain significance | Macrocephaly-autism syndrome | criteria provided, single submitter | not provided |