ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.316-106C>G (rs34690599)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000506073 SCV000603910 pathogenic not specified 2017-03-28 criteria provided, single submitter clinical testing
Counsyl RCV000029978 SCV000678141 pathogenic beta Thalassemia 2015-08-28 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000506445 SCV000331532 pathogenic not provided 2016-07-05 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763248 SCV000893885 pathogenic Beta-thalassemia, dominant inclusion body type; Fetal hemoglobin quantitative trait locus 1; Heinz body anemia; Hb SS disease; alpha Thalassemia; Susceptibility to malaria; beta Thalassemia; METHEMOGLOBINEMIA, BETA TYPE; Erythrocytosis 6, familial 2018-10-31 criteria provided, single submitter clinical testing
GeneReviews RCV000029978 SCV000040709 pathogenic beta Thalassemia 2015-05-14 no assertion criteria provided literature only
Integrated Genetics/Laboratory Corporation of America RCV000029978 SCV000052633 pathogenic beta Thalassemia 2011-08-18 criteria provided, single submitter curation Converted during submission to Pathogenic.
Invitae RCV000506445 SCV000939450 pathogenic not provided 2018-12-28 criteria provided, single submitter clinical testing This sequence change falls in intron 2 of the HBB gene. It does not directly change the encoded amino acid sequence of the HBB protein. This variant is not present in population databases (gnomAD no frequency). This variant has been observed as homozygous or in combination with another HBB variant in individuals affected with β-thalassemia (PMID: 23425204, 25155404, 2713503, 11559932). This variant is also known as IVS-II-745C>G or IVS2-745C>G in the literature. ClinVar contains an entry for this variant (Variation ID: 15457). Experimental studies have shown that this intronic change affects RNA splicing leading to an aberrant transcript (PMID: 6188062). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000016715 SCV000036985 pathogenic Beta-plus-thalassemia 1982-04-15 no assertion criteria provided literature only
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000506445 SCV000601275 pathogenic not provided 2016-11-30 criteria provided, single submitter clinical testing

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