ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.1766+3A>G (rs397508298)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000056354 SCV000071569 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000301070 SCV000331668 pathogenic not provided 2016-05-23 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000056354 SCV000696868 pathogenic Cystic fibrosis 2017-06-13 criteria provided, single submitter clinical testing Variant summary: The CFTR c.1766+3A>G (legacy name: 1898+3A>G) variant involves the alteration of a conserved intronic nucleotide and 3/4 splice prediction tools predict an impact on normal splicing. A functional study, Dujardin_2011, found the variant to cause exon 12 skipping through a mini-gene system. This variant is absent in 119766 control chromosomes (ExAC). Multiple publications have cited the variant in affected individuals, along with multiple clinical diagnostic laboratories/reputable databases classified this variant as pathogenic. Taken together, this variant is classified as pathogenic.
Mendelics RCV000056354 SCV000886223 pathogenic Cystic fibrosis 2018-11-05 criteria provided, single submitter clinical testing

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