ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.312C>G (p.Phe104Leu) (rs35067717)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000016375 SCV000036643 other HEMOGLOBIN HEATHROW 2017-12-12 no assertion criteria provided literature only
OMIM RCV000641462 SCV000763103 pathogenic Erythrocytosis 6, familial 1973-09-29 no assertion criteria provided literature only

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