ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.1680-871A>G

gnomAD frequency: 0.00636  dbSNP: rs572658447
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham 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 2023-02-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000759030 SCV002821846 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing CFTR: BS2
PreventionGenetics, part of Exact Sciences RCV004530290 SCV004751484 benign CFTR-related disorder 2020-02-25 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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