ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.3G>A (p.Met1Ile) (rs33930702)

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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 RCV000508308 SCV000601303 pathogenic not provided 2017-02-06 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000506641 SCV000603948 pathogenic not specified 2017-02-04 criteria provided, single submitter clinical testing
OMIM RCV000016783 SCV000037053 pathogenic beta^0^ Thalassemia 1993-06-01 no assertion criteria provided literature only

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