ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.421G>A (p.Ala141Thr) (rs34980264)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000016582 SCV000036851 other HEMOGLOBIN SAINT JACQUES 2017-12-12 no assertion criteria provided literature only
OMIM RCV000641604 SCV000763246 pathogenic Erythrocytosis 6, familial 1984-01-01 no assertion criteria provided literature only

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