Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000759787 | SCV000889354 | uncertain significance | not provided | 2019-06-25 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000780323 | SCV000917492 | uncertain significance | not specified | 2019-02-01 | criteria provided, single submitter | clinical testing | Variant summary: HBB c.*93A>T is located in the untranslated mRNA region downstream of the termination codon. The variant was absent in 30982 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.*93A>T in individuals affected with Hemoglobinopathy 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. |
ARUP Laboratories, |
RCV000780323 | SCV001158032 | uncertain significance | not specified | 2018-11-28 | criteria provided, single submitter | clinical testing | The HBB c.*93A>T variant (rs901033731), to our knowledge, is not reported in the medical literature or gene specific databases. This variant occurs in the 3' untranslated region at a nucleotide that is weakly conserved. It occurs 15bp upstream of the poly(A) signal, so does not directly alter the signal sequence. It does not introduce any cryptic splice signals. Although there is no evidence predicting that this alteration is deleterious, functional and/or genetic studies would be needed to determine its clinical significance with certainty. |