ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.93-21G>A (rs35004220)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000507963 SCV000603912 pathogenic not specified 2017-06-26 criteria provided, single submitter clinical testing
Counsyl RCV000020343 SCV000678053 pathogenic beta Thalassemia 2015-10-23 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763251 SCV000893888 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 RCV000020343 SCV000040719 pathogenic beta Thalassemia 2015-05-14 no assertion criteria provided literature only
Integrated Genetics/Laboratory Corporation of America RCV000030008 SCV000052663 pathogenic Beta thalassemia major 2011-08-18 criteria provided, single submitter curation Converted during submission to Pathogenic.
Invitae RCV000799079 SCV000938726 pathogenic not provided 2018-10-15 criteria provided, single submitter clinical testing This sequence change falls in intron 1 of the HBB gene. It does not directly change the encoded amino acid sequence of the HBB protein. This variant is present in population databases (rs35004220, ExAC 0.03%). This variant has been observed to be homozygous and in combination with other pathogenic HBB variants in many individuals and families affected with HBB-related conditions (PMID: 28391758, 2200760, 1967205, 28366028). This variant is also known as IVS-I-110G>A in the literature. ClinVar contains an entry for this variant (Variation ID: 15454). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000016712 SCV000036982 pathogenic Beta-plus-thalassemia 1990-01-01 no assertion criteria provided literature only
Pediatric Molecular Hematology,Schneider Children's Medical Center of Israel RCV000020343 SCV000579457 pathogenic beta Thalassemia no assertion criteria provided clinical testing

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