ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.2562T>G (p.Thr854=) (rs1042077)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036519 SCV000060174 benign not specified 2011-10-20 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000036519 SCV000110854 benign not specified 2018-01-19 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000036519 SCV000304482 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000329705 SCV000466519 likely benign Cystic fibrosis 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000036519 SCV000602970 benign not specified 2018-07-03 criteria provided, single submitter clinical testing
GeneDx RCV000036519 SCV000729753 benign not specified 2017-12-27 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000755487 SCV001000273 benign not provided 2019-03-06 criteria provided, single submitter clinical testing
CFTR-France RCV000329705 SCV001169179 benign Cystic fibrosis 2018-01-29 criteria provided, single submitter curation the variant does not result in CFTR-RD neither
Ambry Genetics RCV001015960 SCV001176856 benign Inborn genetic diseases 2014-11-19 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000036519 SCV000150655 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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