ClinVar Miner

Submissions for variant NM_000517.6(HBA2):c.257A>T (p.Asp86Val)

dbSNP: rs41331747
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001284143 SCV000603871 likely benign not provided 2021-05-21 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001284143 SCV001469769 uncertain significance not provided 2020-06-26 criteria provided, single submitter clinical testing
OMIM RCV000016925 SCV000037196 other HEMOGLOBIN INKSTER 2023-09-15 no assertion criteria provided literature only
OMIM RCV000641307 SCV000762948 pathogenic Erythrocytosis, familial, 7 2000-11-01 no assertion criteria provided literature only

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