ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.435G>C (p.Lys145Asn) (rs35020585)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000016249 SCV000036517 other HEMOGLOBIN ANDREW-MINNEAPOLIS 2017-12-12 no assertion criteria provided literature only
OMIM RCV000641406 SCV000763047 pathogenic Erythrocytosis 6, familial 1978-09-01 no assertion criteria provided literature only

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