ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.1584+2T>C

dbSNP: rs397508231
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR-France RCV001009440 SCV001169468 pathogenic Cystic fibrosis 2018-01-29 criteria provided, single submitter curation
Institute of Human Genetics, University of Leipzig Medical Center RCV001009440 SCV002573903 likely pathogenic 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: PVS1_STR, PM2_SUP, PM3
Baylor Genetics RCV004566864 SCV005057476 pathogenic Bronchiectasis with or without elevated sweat chloride 1 2023-11-18 criteria provided, single submitter clinical testing

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