ClinVar Miner

Submissions for variant NM_000558.5(HBA1):c.421T>C (p.Tyr141His)

dbSNP: rs35723200
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000017201 SCV000037473 other HEMOGLOBIN ROUEN 2019-11-01 no assertion criteria provided literature only
OMIM RCV000017202 SCV000037474 other HEMOGLOBIN ETHIOPIA 2019-11-01 no assertion criteria provided literature only
OMIM RCV000641245 SCV000762884 pathogenic Erythrocytosis, familial, 7 1992-01-01 no assertion criteria provided literature only

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