ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.3080T>C (p.Ile1027Thr) (rs1800112)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000224628 SCV000603024 benign not provided 2017-05-31 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224628 SCV000281423 likely benign not provided 2015-12-28 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078993 SCV000110862 benign not specified 2012-12-18 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000029515 SCV000052166 benign Cystic fibrosis 2014-03-18 no assertion criteria provided clinical testing
Invitae RCV000029515 SCV000285002 likely benign Cystic fibrosis 2017-12-12 criteria provided, single submitter clinical testing
PreventionGenetics RCV000078993 SCV000304487 benign not specified criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000078993 SCV000601087 likely benign not specified 2017-05-24 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000224628 SCV000889306 likely benign not provided 2018-07-11 criteria provided, single submitter clinical testing

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