ClinVar Miner

Submissions for variant NM_000518.4(HBB):c.8A>G (p.His3Arg)

dbSNP: rs33983205
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811150 SCV001474508 likely benign not provided 2019-09-12 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001811150 SCV004219896 uncertain significance not provided 2023-06-18 criteria provided, single submitter clinical testing The HBB c.8A>G (p.His3Arg) variant (also known as Hb Deer Lodge) has been reported to have normal stability with slightly increased oxygen affinity and decreased cooperativity (PMID: 393 (1975)). Individuals who are heterozygous for this variant have a normal clinical presentation (), and PMIDs: 3384712 (1988), 1052174 (1976)). Co-occurrence of this variant with Hb S present with simple sickle cell trait (PMID: 1052174 (1976)). Based on the available information, we are unable to determine the clinical significance of this variant.
OMIM RCV000016324 SCV000036592 other HEMOGLOBIN DEER LODGE 2017-12-12 no assertion criteria provided literature only

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