ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.246C>G (p.Leu82=)

dbSNP: rs145669504
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Total submissions: 4
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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 RCV000029970 SCV000052625 likely benign beta Thalassemia 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely benign.
Invitae RCV000944393 SCV001090363 likely benign not provided 2023-12-30 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000944393 SCV002774175 likely benign not provided 2022-12-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV000029970 SCV002089207 likely benign beta Thalassemia 2017-05-05 no assertion criteria provided clinical testing

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