ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.3410T>G (p.Met1137Arg)

dbSNP: rs397508555
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000577123 SCV000886363 pathogenic Cystic fibrosis 2022-05-20 criteria provided, single submitter clinical testing
CFTR-France RCV000577123 SCV001169275 pathogenic Cystic fibrosis 2015-07-03 criteria provided, single submitter curation
Institute of Human Genetics, University of Leipzig Medical Center RCV000577123 SCV002573979 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: PS3_SUP, PM3, PM2_SUP, PM5, PP3, PP4
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000577123 SCV000679053 not provided Cystic fibrosis no assertion provided literature only

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