ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.92+5G>T (rs33915217)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000506613 SCV000603942 pathogenic not specified 2017-06-09 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000030005 SCV000052660 pathogenic Beta thalassemia major 2011-08-18 criteria provided, single submitter curation Converted during submission to Pathogenic.
OMIM RCV000016706 SCV000036976 pathogenic Beta-plus-thalassemia 1989-03-01 no assertion criteria provided literature only
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000505898 SCV000601329 pathogenic not provided 2016-09-07 criteria provided, single submitter clinical testing

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