ClinVar Miner

Submissions for variant NM_000558.3(HBA1):c.49A>G (p.Lys17Glu) (rs41407250)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000017051 SCV000037323 other HEMOGLOBIN I 2018-05-10 no assertion criteria provided literature only
OMIM RCV000017052 SCV000037324 other HEMOGLOBIN I (BURLINGTON) 2018-05-10 no assertion criteria provided literature only
OMIM RCV000017053 SCV000037325 other HEMOGLOBIN I (PHILADELPHIA) 2018-05-10 no assertion criteria provided literature only
OMIM RCV000017054 SCV000037326 other HEMOGLOBIN I (SKAMANIA) 2018-05-10 no assertion criteria provided literature only
OMIM RCV000017055 SCV000037327 other HEMOGLOBIN I (TEXAS) 2018-05-10 no assertion criteria provided literature only
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000507468 SCV000601196 likely benign not specified 2016-12-09 criteria provided, single submitter clinical testing

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