ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.2T>G (p.Met1Arg) (rs33941849)

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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 RCV000507488 SCV000603920 pathogenic not specified 2016-10-01 criteria provided, single submitter clinical testing
Counsyl RCV000664667 SCV000788668 pathogenic beta Thalassemia 2017-10-05 criteria provided, single submitter clinical testing
OMIM RCV000016691 SCV000036961 pathogenic beta^0^ Thalassemia 1992-06-01 no assertion criteria provided literature only
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000505904 SCV000601269 pathogenic not provided 2017-07-10 criteria provided, single submitter clinical testing

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