ClinVar Miner

Submissions for variant NM_000518.4(HBB):c.299A>G (p.Asp100Gly) (rs33971048)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000016388 SCV000036656 other HEMOGLOBIN HOTEL-DIEU 2017-12-12 no assertion criteria provided literature only
OMIM RCV000641476 SCV000763117 pathogenic Erythrocytosis 6, familial 1981-01-01 no assertion criteria provided literature only

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