Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001800306 | SCV002047203 | pathogenic | not provided | 2021-05-28 | criteria provided, single submitter | clinical testing | This pathogenic variant abolishes the synthesis of normal beta-globin mRNA from the mutant allele and is associated with beta(0)-thalassemia ( PMID: 1398296 (1992)). |
OMIM | RCV000016774 | SCV000037044 | pathogenic | Beta zero thalassemia | 1992-03-01 | no assertion criteria provided | literature only | |
The ITHANET community portal, |
RCV001078268 | SCV001244416 | pathogenic | beta Thalassemia | 2019-11-25 | no assertion criteria provided | curation |