ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.54-5940_273+10250del

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000056395 SCV000071491 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
Mendelics RCV000056395 SCV000886203 pathogenic Cystic fibrosis 2018-11-05 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000780152 SCV000917199 pathogenic not specified 2017-12-07 criteria provided, single submitter clinical testing Variant summary: This CFTR variant c.54-5940_273+10250del involves the deletion of exons 2 and 3 in the CFTR gene. This presumably will lead to out-of-frame translational product. The frequency of this variant in the general population could not be determined due to the technology used for large population databases (ExAC, ESP, 1000G, gnomAD) cannot detect deletions this large. This variant has been reported in numerous affected individuals via publications and reputable databases as a CF-causing variant. Taken together, this variant is classified as pathogenic.
Johns Hopkins Genomics, Johns Hopkins University RCV000056395 SCV000992338 pathogenic Cystic fibrosis 2019-02-18 criteria provided, single submitter clinical testing
CFTR-France RCV000056395 SCV001169301 pathogenic Cystic fibrosis 2018-01-29 criteria provided, single submitter curation
Institute of Reproductive Genetics, University of Münster RCV001705711 SCV001911514 pathogenic Obstructive azoospermia 2021-08-23 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV000056395 SCV002573918 pathogenic Cystic fibrosis 2022-09-05 criteria provided, single submitter curation This variant was identified in 4 unrelated patients with a clinically confirmed diagnosis of cystic fibrosis. The variant was classified in the context of a project re-classifying variants in the German Cystic Fibrosis Registry (Muko.e.V.). Link: https://www.muko.info/angebote/qualitaetsmanagement/register/cf-einrichtungen/mukoweb. Criteria applied: PVS1, PM3_VSTR, PM2_SUP, PP4
GeneReviews RCV000119042 SCV000153748 not provided Hereditary pancreatitis no assertion provided literature only

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