Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Lupski Lab, |
RCV000210413 | SCV000266402 | pathogenic | STAT3-related early-onset multisystem autoimmune disease | 2014-10-30 | criteria provided, single submitter | research | segregates with the phenotype in an affected family |
OMIM | RCV000210413 | SCV000280010 | pathogenic | STAT3-related early-onset multisystem autoimmune disease | 2016-09-15 | no assertion criteria provided | literature only |