ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.425T>G (p.Leu142Arg)

dbSNP: rs35854892
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003476896 SCV004219886 uncertain significance not provided 2023-09-20 criteria provided, single submitter clinical testing The HBB c.425T>G (p.Leu142Arg) variant has been reported in the published literature in individuals with hemolytic anemia and is known as Hb Olmsted (PMID: 5780360 (1969), 8579053 (1996)). This variant has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). Based on the available information, we are unable to determine the clinical significance of this variant.
OMIM RCV000016531 SCV000036799 other HEMOGLOBIN OLMSTED 2017-12-12 no assertion criteria provided literature only

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