ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.25_26del (p.Lys9fs) (rs35497102)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000029972 SCV000678156 pathogenic beta Thalassemia 2015-09-03 criteria provided, single submitter clinical testing
GeneReviews RCV000029972 SCV000040706 pathogenic beta Thalassemia 2015-05-14 no assertion criteria provided literature only
Integrated Genetics/Laboratory Corporation of America RCV000029972 SCV000052627 pathogenic beta Thalassemia 2011-08-18 criteria provided, single submitter curation Converted during submission to Pathogenic.
Invitae RCV000506563 SCV000953169 pathogenic not provided 2018-11-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys9Valfs*14) in the HBB gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs35497102, ExAC 0.01%). This variant has been observed in several individuals with HBB-related conditions (PMID: 3828533, 25405919, 28391758, 26771086). ClinVar contains an entry for this variant (Variation ID: 15413). Loss-of-function variants in HBB are known to be pathogenic (PMID: 23637309). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000016669 SCV000036939 pathogenic beta^0^ Thalassemia 1995-04-01 no assertion criteria provided literature only
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000506563 SCV000601261 pathogenic not provided 2016-11-12 criteria provided, single submitter clinical testing

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