ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.*96T>C (rs34029390)

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Total submissions: 7
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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 RCV000029999 SCV000052654 likely benign beta Thalassemia 2011-08-18 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000506456 SCV000601232 likely benign not specified 2017-06-07 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001282295 SCV000603888 benign none provided 2020-03-10 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000755281 SCV000889355 likely benign not provided 2019-11-12 criteria provided, single submitter clinical testing
Invitae RCV000755281 SCV001001217 likely benign not provided 2020-12-04 criteria provided, single submitter clinical testing
Mendelics RCV000029999 SCV001138213 benign beta Thalassemia 2019-05-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000029999 SCV001262805 uncertain significance beta Thalassemia 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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