ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.127_129del (p.Phe43del)

dbSNP: rs41417446
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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 RCV001800300 SCV002046643 uncertain significance not provided 2021-02-11 criteria provided, single submitter clinical testing
OMIM RCV000016277 SCV000036545 pathogenic Hemoglobinopathy 1989-01-01 no assertion criteria provided literature only
OMIM RCV000016278 SCV000036546 pathogenic Heinz body anemia 1989-01-01 no assertion criteria provided literature only

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