Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000029998 | SCV000052653 | uncertain significance | not specified | 2019-10-17 | criteria provided, single submitter | clinical testing | Variant summary: HBB c.*91G>A is located in the untranslated mRNA region downstream of the termination codon. The variant allele was found at a frequency of 9.6e-05 in 31406 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.*91G>A in individuals affected with Beta Thalassemia and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance. |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV003476903 | SCV004219848 | uncertain significance | not provided | 2023-04-01 | criteria provided, single submitter | clinical testing | The HBB c.*91G>A variant has not been reported in individual with HBB-related conditions the published literature. Based on the available information, we are unable to determine the clinical significance of this variant. |