ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.201A>G (p.Lys67=)

gnomAD frequency: 0.00001  dbSNP: rs36092904
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759793 SCV000889364 uncertain significance not provided 2018-02-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000759793 SCV002444939 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005240537 SCV005885554 likely benign not specified 2025-02-11 criteria provided, single submitter clinical testing

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