Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Groupe Hospitalier Pitie Salpetriere, |
RCV000496163 | SCV000586786 | likely pathogenic | Lamb-Shaffer syndrome | 2017-01-06 | criteria provided, single submitter | clinical testing | autism with no language; tall stature; macrocephaly |
Institute for Human Genetics, |
RCV000857307 | SCV000999902 | uncertain significance | Intellectual disability | 2019-08-05 | no assertion criteria provided | clinical testing |