ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.2T>C (p.Met1Thr) (rs33941849)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000029976 SCV000220671 likely pathogenic beta Thalassemia 2014-09-04 criteria provided, single submitter literature only
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000508042 SCV000601268 pathogenic not provided 2017-07-10 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000507640 SCV000603923 pathogenic not specified 2017-01-27 criteria provided, single submitter clinical testing
OMIM RCV000016692 SCV000036962 pathogenic beta^0^ Thalassemia 1998-05-01 no assertion criteria provided literature only
OMIM RCV000016693 SCV000036963 pathogenic Beta-thalassemia, lermontov type 1998-05-01 no assertion criteria provided literature only
Integrated Genetics/Laboratory Corporation of America RCV000029976 SCV000052631 pathogenic beta Thalassemia 2015-04-21 no assertion criteria provided clinical testing
The ITHANET community portal, The Cyprus Institute of Neurology and Genetics RCV000029976 SCV001244630 pathogenic beta Thalassemia 2019-11-25 no assertion criteria provided curation

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