Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
San Raffaele Telethon Institute for Gene Therapy, |
RCV000791262 | SCV000930546 | pathogenic | Wiskott-Aldrich syndrome | 2015-02-20 | no assertion criteria provided | clinical testing | X-linked recessive immunodeficiency characterized by thrombocytopenia, eczema, and recurrent infections |