Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000187451 | SCV000241044 | pathogenic | not provided | 2015-02-05 | criteria provided, single submitter | clinical testing | The Q86X nonsense mutation in the FOXG1 gene has been identified previously in a patient with clinical features consistent with congenital Rett syndrome (Kortum et al., 2011). This mutation is predicted to cause loss of normal protein function through protein truncation. Although this mutation has not been reported previously to our knowledge, its presence is consistent with a diagnosis of a FOXG1-related disorder. The variant is found in FOXG1 panel(s). |
Neuro |
RCV000170072 | SCV000693778 | likely pathogenic | Rett syndrome, congenital variant | 2018-01-01 | criteria provided, single submitter | clinical testing | |
Center for Human Genetics, |
RCV000170072 | SCV000781522 | likely pathogenic | Rett syndrome, congenital variant | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Rett |
RCV000170072 | SCV000222382 | pathogenic | Rett syndrome, congenital variant | 2011-09-26 | no assertion criteria provided | curation |