ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.3963+69A>G

gnomAD frequency: 0.00019  dbSNP: rs540577876
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR-France RCV001009336 SCV001169178 benign Cystic fibrosis 2018-01-29 criteria provided, single submitter curation the variant does not result in CFTR-RD neither
Institute of Human Genetics, University of Leipzig Medical Center RCV001009336 SCV002573956 uncertain significance Cystic fibrosis 2022-09-05 criteria provided, single submitter curation This variant was identified in 1 patient 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: BP2, PM2_SUP

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