ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.2620-22A>G

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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 RCV003477158 SCV004221676 uncertain significance not provided 2023-03-15 criteria provided, single submitter clinical testing The frequency of this variant in the general population, 0.00018 (23/129168 chromosomes,, is uninformative in assessment of its pathogenicity. In the published literature, the variant has been reported in an individual affected with diffuse bronchiectasis (PMID: 7543317 (1995)). Analysis of this variant using software algorithms for the prediction of the effect of nucleotide changes on splicing yielded predictions that this variant does not affect CFTR mRNA splicing . Based on the available information, we are unable to determine the clinical significance of this variant.
PreventionGenetics, part of Exact Sciences RCV004540684 SCV004785008 likely benign CFTR-related disorder 2021-11-19 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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