ClinVar Miner

Submissions for variant NM_000517.6(HBA2):c.301-24delinsCTCGGCCC (rs1596570272)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001000888 SCV001157970 benign none provided 2020-03-13 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001284145 SCV001469771 uncertain significance not provided 2020-01-30 criteria provided, single submitter clinical testing
The ITHANET community portal, The Cyprus Institute of Neurology and Genetics RCV001078245 SCV001244387 benign alpha Thalassemia 2019-11-25 no assertion criteria provided curation

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