ClinVar Miner

Submissions for variant NM_000517.4(HBA2):c.49A>G (p.Lys17Glu)

dbSNP: rs281865555
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985727 SCV001134200 uncertain significance not provided 2023-01-17 criteria provided, single submitter clinical testing The HBA2 c.49A>G (p.Lys17Glu or Lys16Glu) variant, also known as Hb I, is reported as having normal function and stability. Individuals heterozygous for this variant have normal clinical presentations with Hb I being 15-28% of the total hemoglobin (PMID: 7803274 (1994), 6085353 (1984)). Based on the available information, we are unable to determine the clinical significance of this variant.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000985727 SCV001157421 likely benign not provided 2021-12-21 criteria provided, single submitter clinical testing
OMIM RCV000016905 SCV000037176 other HEMOGLOBIN I 2013-03-28 no assertion criteria provided literature only
OMIM RCV000016906 SCV000037177 other HEMOGLOBIN I (BURLINGTON) 2013-03-28 no assertion criteria provided literature only
OMIM RCV000016907 SCV000037178 other HEMOGLOBIN I (PHILADELPHIA) 2013-03-28 no assertion criteria provided literature only
OMIM RCV000016908 SCV000037179 other HEMOGLOBIN I (SKAMANIA) 2013-03-28 no assertion criteria provided literature only
OMIM RCV000016909 SCV000037180 other HEMOGLOBIN I (TEXAS) 2013-03-28 no assertion criteria provided literature only

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