ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.93-23T>C

gnomAD frequency: 0.00593  dbSNP: rs111851677
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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 RCV000030010 SCV000052665 uncertain beta Thalassemia 2011-08-18 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000860961 SCV000603926 benign not provided 2023-11-22 criteria provided, single submitter clinical testing
Invitae RCV000860961 SCV001001151 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000860961 SCV001134241 likely benign not provided 2020-12-09 criteria provided, single submitter clinical testing
Mendelics RCV003323278 SCV001138220 benign Beta-thalassemia HBB/LCRB 2023-08-22 criteria provided, single submitter clinical testing
The ITHANET community portal, The Cyprus Institute of Neurology and Genetics RCV000030010 SCV001244517 benign beta Thalassemia 2019-11-25 no assertion criteria provided curation
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals RCV000030010 SCV002754551 likely benign beta Thalassemia 2022-10-14 no assertion criteria provided clinical testing

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