ClinVar Miner

Submissions for variant NM_000517.6(HBA2):c.122A>T (p.Lys41Met)

dbSNP: rs281864828
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000017189 SCV000037461 other HEMOGLOBIN KANAGAWA 2019-11-01 no assertion criteria provided literature only
OMIM RCV000641239 SCV000762878 pathogenic Erythrocytosis, familial, 7 1992-01-01 no assertion criteria provided literature only

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