ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.4058del (p.Gln1352_Leu1353insTer) (rs1562928927)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000732035 SCV000859911 pathogenic not provided 2018-02-23 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000732035 SCV000888095 pathogenic not provided 2017-10-24 criteria provided, single submitter clinical testing
Invitae RCV000799970 SCV000939664 pathogenic Cystic fibrosis 2018-08-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu1353*) in the CFTR gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CFTR-related disease. Loss-of-function variants in CFTR are known to be pathogenic (PMID: 1695717, 7691345, 9725922). For these reasons, this variant has been classified as Pathogenic.

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