ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.93-3T>G (rs34527846)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000030011 SCV000052666 pathogenic beta Thalassemia 2016-05-09 criteria provided, single submitter clinical testing Variant summary: The HBB c.93-3T>G variant affects a conserved intronic nucleotide close to the consensus splice acceptor site. MutationTaster predicts damaging outcome for this variant. In addition, 3/5 splice-tools in Alamut predict that this variant to affect normal splicing. This variant is found in 1/122554 control chromosomes including the large and broad population of ExAC at a frequency of 0.0000082, which does not exceed the estimated maximal expected frequency of a pathogenic allele (0.0111803) in this gene. In literature, this variant is widely regarded as a variant that causes BTHAL ITMD with consistent patient/family data. Taken together, this variant has been classified as pathogenic.

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