ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.354del (p.Phe119fs)

dbSNP: rs281864528
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
The ITHANET community portal, The Cyprus Institute of Neurology and Genetics RCV001078330 SCV001244500 pathogenic beta Thalassemia 2019-11-25 no assertion criteria provided curation

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