ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.3929G>A (p.Trp1310Ter)

dbSNP: rs397508645
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000047036 SCV001981581 pathogenic Cystic fibrosis 2021-09-24 reviewed by expert panel research
Counsyl RCV000047036 SCV000487111 likely pathogenic Cystic fibrosis 2016-10-06 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV000047036 SCV002574041 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, PS1, PM2_SUP, PM3
Natera, Inc. RCV001831786 SCV002075913 pathogenic CFTR-related disorder 2017-03-17 no assertion criteria provided clinical testing

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