ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.2559T>C (p.Ile853=) (rs1800104)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000281657 SCV000466518 uncertain significance Cystic fibrosis 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000281657 SCV000625733 likely benign Cystic fibrosis 2020-12-04 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000593086 SCV000702203 uncertain significance not provided 2016-09-27 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001282876 SCV000883567 likely benign none provided 2020-02-05 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000781229 SCV000919133 likely benign not specified 2020-11-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV001015929 SCV001176824 likely benign Inborn genetic diseases 2015-10-29 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000593086 SCV001470295 likely benign not provided 2020-04-13 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000281657 SCV001653408 likely benign Cystic fibrosis 2021-05-18 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000593086 SCV001747525 likely benign not provided 2021-03-01 criteria provided, single submitter clinical testing

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