ClinVar Miner

Submissions for variant NM_000517.6(HBA2):c.301-1G>A

dbSNP: rs587776827
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002496386 SCV002810554 likely pathogenic Heinz body anemia; alpha Thalassemia; Hemoglobin H disease; Erythrocytosis, familial, 7 2021-11-12 criteria provided, single submitter clinical testing
OMIM RCV000016954 SCV000037226 other HEMOGLOBIN CLINICO-MADRID 2013-03-28 no assertion criteria provided literature only
OMIM RCV000022607 SCV000043896 pathogenic Hemoglobin H disease, nondeletional 2001-08-01 no assertion criteria provided literature only
The ITHANET community portal, The Cyprus Institute of Neurology and Genetics RCV001078244 SCV001244386 pathogenic alpha Thalassemia 2019-11-25 no assertion criteria provided curation

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