ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.316-177A>G

gnomAD frequency: 0.00003  dbSNP: rs964085975
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000507329 SCV000601279 uncertain significance not specified 2017-06-20 criteria provided, single submitter clinical testing
Invitae RCV003736798 SCV004559717 likely benign not provided 2023-08-24 criteria provided, single submitter clinical testing

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