ClinVar Miner

Submissions for variant NM_000517.6(HBA2):c.89T>C (p.Leu30Pro) (rs41341344)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759059 SCV000888140 pathogenic not provided 2018-04-25 criteria provided, single submitter clinical testing
OMIM RCV000016937 SCV000037208 other HEMOGLOBIN AGRINIO 2013-03-28 no assertion criteria provided literature only
OMIM RCV000022605 SCV000043894 pathogenic Hemoglobin H disease, nondeletional 1998-05-01 no assertion criteria provided literature only

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