ClinVar Miner

Submissions for variant NM_000518.4(HBB):c.137T>G (p.Phe46Cys)

dbSNP: rs33978338
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005049377 SCV005684702 likely pathogenic Dominant beta-thalassemia; Heinz body anemia; Hb SS disease; Malaria, susceptibility to; METHEMOGLOBINEMIA, BETA TYPE; Erythrocytosis, familial, 6; Hereditary persistence of fetal hemoglobin; Beta-thalassemia HBB/LCRB 2024-02-16 criteria provided, single submitter clinical testing
OMIM RCV000016812 SCV000037082 other HEMOGLOBIN ARTA 2017-12-12 no assertion criteria provided literature only

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