ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.93-1G>C (rs33943001)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000506434 SCV000601335 pathogenic not provided 2017-06-30 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV001078336 SCV001363915 pathogenic beta Thalassemia 2019-03-25 criteria provided, single submitter clinical testing Variant summary: HBB c.93-1G>C is located in a canonical splice-site and is predicted to affect mRNA splicing resulting in a significantly altered protein due to either exon skipping, shortening, or inclusion of intronic material. Several computational tools predict a significant impact on normal splicing: Five predict the variant abolishes a 3 acceptor site. The variant allele was found at a frequency of 4.1e-06 in 246102 control chromosomes (gnomAD). c.93-1G>C has been reported in the literature in multiple affected individuals (Sankaran_2011, Najmabadi_2002, el-Kalla_1997, Oner_1990). These data indicate that the variant is very likely to be associated with disease. A ClinVar submission from a clinical diagnostic laboratory (evaluation after 2014) cites the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
The ITHANET community portal, The Cyprus Institute of Neurology and Genetics RCV001078336 SCV001244514 pathogenic beta Thalassemia 2019-11-25 no assertion criteria provided curation

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