ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.650A>G (p.Glu217Gly) (rs121909046)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000586415 SCV000700761 uncertain significance not provided 2018-07-10 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000007660 SCV000466505 likely benign Cystic fibrosis 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586415 SCV000697040 uncertain significance not provided 2017-02-10 criteria provided, single submitter clinical testing
Invitae RCV000007660 SCV000562306 benign Cystic fibrosis 2017-06-26 criteria provided, single submitter clinical testing
OMIM RCV000007660 SCV000027861 pathogenic Cystic fibrosis 2003-09-15 no assertion criteria provided literature only
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000506350 SCV000601129 uncertain significance not specified 2017-01-10 criteria provided, single submitter clinical testing
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000007660 SCV000267252 uncertain significance Cystic fibrosis 2016-03-18 criteria provided, single submitter reference population

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