ClinVar Miner

Submissions for variant NM_000518.4(HBB):c.83C>A (p.Ala28Asp)

dbSNP: rs33954632
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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 RCV001800304 SCV002046407 pathogenic not provided 2020-11-13 criteria provided, single submitter clinical testing The variant has been reported as an unstable beta globin variant. Individuals heterozygous for this variant have been reported to present with hemolytic anemia (PMID 952960 (1976), 3240605 (1998), 27686852 (2016)). In addition, this variant was reported as a de novo mutation in two individuals with hemolytic anemia (PMID 24904938 (2014), 8330973 (1993)). Therefore, this variant is classified as pathogenic.
OMIM RCV000016638 SCV000036907 other HEMOGLOBIN VOLGA 2017-12-12 no assertion criteria provided literature only
OMIM RCV000016639 SCV000036908 other HEMOGLOBIN DRENTHE 2017-12-12 no assertion criteria provided literature only

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