ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.-4C>T

gnomAD frequency: 0.00001  dbSNP: rs1035531758
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001175411 SCV001338951 uncertain significance not specified 2020-03-06 criteria provided, single submitter clinical testing Variant summary: HBB c.-4C>T is located in the untranslated mRNA region upstream of the initiation codon. The variant was absent in 251080 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.-4C>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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003478703 SCV004219889 uncertain significance not provided 2023-09-20 criteria provided, single submitter clinical testing The HBB c.-4C>T variant, to the best of our knowledge, has not been reported in the published literature. It also has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). Based on the available information, we are unable to determine the clinical significance of this variant.
Natera, Inc. RCV001833733 SCV002091625 uncertain significance beta Thalassemia 2020-09-30 no assertion criteria provided clinical testing

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