Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002205873 | SCV002377066 | likely benign | Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of function | 2023-05-11 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003883759 | SCV004699105 | likely benign | not provided | 2024-01-01 | criteria provided, single submitter | clinical testing | STAT3: BP4, BP7 |