ClinVar Miner

Submissions for variant NM_000518.4(HBB):c.206T>A (p.Leu69His)

dbSNP: rs33972593
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000016272 SCV000036540 other HEMOGLOBIN BRISBANE 2017-12-12 no assertion criteria provided literature only
OMIM RCV000016273 SCV000036541 other HEMOGLOBIN GREAT LAKES 2017-12-12 no assertion criteria provided literature only
OMIM RCV000641416 SCV000763057 pathogenic Erythrocytosis, familial, 6 1983-01-01 no assertion criteria provided literature only

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