ClinVar Miner

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

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000508208 SCV000601334 pathogenic not provided 2017-06-30 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000587419 SCV000697158 pathogenic beta Thalassemia 2016-05-19 criteria provided, single submitter clinical testing Variant summary: The HBB c.93-1G>A variant involves the alteration of a conserved intronic nucleotide. One in silico tool predicts a damaging outcome for this variant. 5/5 splice prediction tools predict loss/weakening effect on the canonical RNA splicing acceptor site. This variant is absent in 121234 control chromosomes. This variant has been reported in multiple BTHAL patients including BTHAL-Major and intermedia. In addition, reputable databases (OMIM, ithanet) classified this variant as pathogenic. Taken together, this variant is classified as pathogenic.
OMIM RCV000016704 SCV000036974 pathogenic beta^0^ Thalassemia 1978-09-01 no assertion criteria provided literature only
The ITHANET community portal, The Cyprus Institute of Neurology and Genetics RCV000587419 SCV001244513 pathogenic beta Thalassemia 2019-11-25 no assertion criteria provided curation

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