ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.-78A>G (rs33931746)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000029960 SCV000677933 likely pathogenic beta Thalassemia 2017-06-16 criteria provided, single submitter clinical testing The -28A>G mutation is associated with beta thalassemia.
GeneReviews RCV000029960 SCV000040701 pathogenic beta Thalassemia 2015-05-14 no assertion criteria provided literature only
Integrated Genetics/Laboratory Corporation of America RCV000029960 SCV000052615 pathogenic beta Thalassemia 2011-08-18 criteria provided, single submitter curation Converted during submission to Pathogenic.
OMIM RCV000016729 SCV000036999 pathogenic Beta-plus-thalassemia 1983-07-25 no assertion criteria provided literature only
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000506257 SCV000601318 pathogenic not provided 2017-04-20 criteria provided, single submitter clinical testing

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