ClinVar Miner

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

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000030004 SCV000220579 likely pathogenic beta Thalassemia 2014-08-06 criteria provided, single submitter literature only
Integrated Genetics/Laboratory Corporation of America RCV000030004 SCV000052659 pathogenic beta Thalassemia 2011-08-18 criteria provided, single submitter curation Converted during submission to Pathogenic.
OMIM RCV000016707 SCV000036977 pathogenic Beta-plus-thalassemia 1986-09-14 no assertion criteria provided literature only

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