ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.110del (p.Pro37fs) (rs267607297)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000586096 SCV000697057 pathogenic beta Thalassemia 2016-10-21 criteria provided, single submitter clinical testing Variant summary: The HBB c.110delC (p.Pro37Leufs) variant results in a premature termination codon, predicted to cause a truncated or absent HBB protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant of interest was not found in controls (ExAC, 1000 Gs or ESP) and has been reported in multiple affected individuals predominantly as a compound heterozygote. In addition, multiple reputable databases cite the variant as "pathogenic." Therefore, the variant of interest has been classified as Pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759790 SCV000889359 pathogenic not provided 2017-12-09 criteria provided, single submitter clinical testing
OMIM RCV000016680 SCV000036950 pathogenic beta^0^ Thalassemia 1989-05-01 no assertion criteria provided literature only
The ITHANET community portal, The Cyprus Institute of Neurology and Genetics RCV000586096 SCV001244469 pathogenic beta Thalassemia 2019-11-25 no assertion criteria provided curation

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