ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.201del (p.Val68fs)

dbSNP: rs193922553
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000029967 SCV000052622 likely pathogenic Dominant beta-thalassemia 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely pathogenic.
The ITHANET community portal, The Cyprus Institute of Neurology and Genetics RCV001078264 SCV001244407 pathogenic beta Thalassemia 2019-11-25 no assertion criteria provided curation

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