ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.316-14T>G (rs35703285)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000029980 SCV000052635 pathogenic beta Thalassemia 2011-08-18 criteria provided, single submitter curation Converted during submission to Pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759066 SCV000888148 pathogenic not provided 2017-12-07 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000759066 SCV001714964 pathogenic not provided 2020-03-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV000029980 SCV001463831 pathogenic beta Thalassemia 2020-09-16 no assertion criteria provided clinical testing

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