ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.1327_1330dupGATA (p.Ile444Argfs) (rs397508189)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000169333 SCV000071468 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224712 SCV000281544 pathogenic not provided 2015-02-19 criteria provided, single submitter clinical testing
Counsyl RCV000169333 SCV000220674 likely pathogenic Cystic fibrosis 2014-09-07 criteria provided, single submitter literature only
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000224712 SCV000863370 pathogenic not provided 2018-09-18 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000224712 SCV000601040 pathogenic not provided 2017-05-22 criteria provided, single submitter clinical testing

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