ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.254G>A (p.Gly85Glu) (rs75961395)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
American College of Medical Genetics and Genomics (ACMG) RCV000007563 SCV000071400 pathogenic Cystic fibrosis 2004-03-03 practice guideline curation Converted during submission to Pathogenic.
CFTR2 RCV000007563 SCV000071502 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224170 SCV000281534 pathogenic not provided 2015-11-24 criteria provided, single submitter clinical testing
Counsyl RCV000007563 SCV000678123 pathogenic Cystic fibrosis 2015-10-30 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000224170 SCV000700671 pathogenic not provided 2017-02-07 criteria provided, single submitter clinical testing
Mendelics RCV000007563 SCV000886181 pathogenic Cystic fibrosis 2018-11-05 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000224170 SCV000888081 pathogenic not provided 2016-08-11 criteria provided, single submitter clinical testing
OMIM RCV000007563 SCV000027764 pathogenic Cystic fibrosis 1991-12-01 no assertion criteria provided literature only

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