Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV004998643 | SCV005625772 | likely pathogenic | not provided | 2023-09-27 | criteria provided, single submitter | clinical testing | The HBB c.3G>T variant disrupts the translation initiation codon of the HBB mRNA and is predicted to interfere with HBB protein synthesis. In the published literature, this variant has been reported in individuals with beta thalassemia (PMID: 8144357 (1993), 8718703 (1995)). This variant has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). Based on the available information, this variant is classified as likely pathogenic. |
The ITHANET community portal, |
RCV001078378 | SCV001244576 | pathogenic | beta Thalassemia | 2019-11-25 | no assertion criteria provided | curation |