ClinVar Miner

Submissions for variant NM_000518.4(HBB):c.44T>G (p.Leu15Arg)

dbSNP: rs33935445
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000588440 SCV000605837 uncertain significance not provided 2020-11-06 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000588440 SCV000697133 uncertain significance not provided 2016-03-01 criteria provided, single submitter clinical testing
OMIM RCV000016604 SCV000036873 other HEMOGLOBIN SOGN 2017-12-12 no assertion criteria provided literature only
Natera, Inc. RCV001272129 SCV001453789 uncertain significance beta Thalassemia 2020-09-16 no assertion criteria provided clinical testing

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