ClinVar Miner

Submissions for variant NM_000558.5(HBA1):c.*46C>A

gnomAD frequency: 0.01440  dbSNP: rs141514155
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000755545 SCV000601184 likely benign not provided 2023-04-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755545 SCV000603864 benign not provided 2020-03-31 criteria provided, single submitter clinical testing
The ITHANET community portal, The Cyprus Institute of Neurology and Genetics RCV001078388 SCV001244590 benign alpha Thalassemia 2019-11-25 no assertion criteria provided curation
Natera, Inc. RCV001078388 SCV002093865 benign alpha Thalassemia 2017-08-09 no assertion criteria provided clinical testing

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