ClinVar Miner

Submissions for variant NM_000517.4(HBA2):c.49A>G (p.Lys17Glu) (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 2018-12-19 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001000515 SCV001157421 likely benign none provided 2020-06-04 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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