ClinVar Miner

Submissions for variant NC_000011.10:g.5226570_5233984del

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000415449 SCV000492683 pathogenic Anemia; Abnormal hemoglobin; Persistence of hemoglobin F; Reduced beta/alpha synthesis ratio 2014-09-12 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196231 SCV001366781 pathogenic alpha Thalassemia 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic.
OMIM RCV000016208 SCV000036476 pathogenic Hemoglobin Lepore trait 1992-04-01 no assertion criteria provided literature only

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