ClinVar Miner

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

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000007660 SCV000267252 uncertain significance Cystic fibrosis 2016-03-18 criteria provided, single submitter reference population
Illumina Clinical Services Laboratory,Illumina RCV001095295 SCV000466505 likely benign CFTR-related disorders 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV000007660 SCV000562306 benign Cystic fibrosis 2019-12-31 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000506350 SCV000601129 uncertain significance not specified 2017-01-10 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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000586415 SCV000700761 uncertain significance not provided 2018-07-10 criteria provided, single submitter clinical testing
Mendelics RCV000007660 SCV001137468 uncertain significance Cystic fibrosis 2019-05-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV001025354 SCV001187527 benign Inborn genetic diseases 2018-03-02 criteria provided, single submitter clinical testing General population or sub-population frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance;In silico models in agreement (benign)
OMIM RCV000007660 SCV000027861 pathogenic Cystic fibrosis 2003-09-15 no assertion criteria provided literature only

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