ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.93-23T>C (rs111851677)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000030010 SCV000052665 uncertain beta Thalassemia 2011-08-18 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000507701 SCV000603926 benign not specified 2018-10-15 criteria provided, single submitter clinical testing
Invitae RCV000860961 SCV001001151 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000860961 SCV001134241 likely benign not provided 2018-11-18 criteria provided, single submitter clinical testing
Mendelics RCV000030010 SCV001138220 uncertain significance beta Thalassemia 2019-05-28 criteria provided, single submitter clinical testing
The ITHANET community portal, The Cyprus Institute of Neurology and Genetics RCV000030010 SCV001244517 benign beta Thalassemia 2019-11-25 no assertion criteria provided curation

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