ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.1680-871A>G (rs572658447)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000215441 SCV000270057 likely benign not specified 2015-10-12 criteria provided, single submitter clinical testing c.1680-871A>G in intron 12 of CFTR: This variant is not expected to have clinica l significance because it has been identified in 0.36% (18/5008) of ACB chromoso mes by the 1000 Genomes Project (dbSNP rs572658447).
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759030 SCV000888071 likely benign not provided 2019-07-02 criteria provided, single submitter clinical testing

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