ClinVar Miner

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

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Total submissions: 6
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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 2019-12-31 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 RCV000593086 SCV000883567 likely benign not provided 2017-05-19 criteria provided, single submitter clinical testing The CFTR c.2559T>C, p.Ile853Ile variant (rs1800104) has not been reported in the medical literature or gene-specific variant databases. It is observed in the general population databases at a frequency of 0.06 percent in the 1000 Genomes Project (3/5008 alleles), 0.02 percent in the Exome Variant Server (2/13006 alleles), and 0.03 percent in the Genome Aggregation Database (88/277070 alleles). The variant is a synonymous substitution, and computational algorithms (GeneSplicer, Human Splicing Finder, MaxEntScan, MutationTaster, NetGene2, NNSplice, SpliceSiteFinder-like) predict that the variant has no impact on splicing. Based on the above information, the variant is considered likely benign.
Integrated Genetics/Laboratory Corporation of America RCV000781229 SCV000919133 likely benign not specified 2019-08-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV001015929 SCV001176824 likely benign Inborn genetic diseases 2015-10-29 criteria provided, single submitter clinical testing

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