ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.117_118del (p.Gln40fs)

dbSNP: rs267607291
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000016817 SCV000037087 pathogenic beta Thalassemia 1996-07-01 no assertion criteria provided literature only
The ITHANET community portal, The Cyprus Institute of Neurology and Genetics RCV000016817 SCV001244539 pathogenic beta Thalassemia 2019-11-25 no assertion criteria provided curation

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