ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.2834C>T (p.Ser945Leu) (rs397508442)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000056372 SCV000071530 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
Counsyl RCV000056372 SCV000220296 pathogenic Cystic fibrosis 2014-05-08 criteria provided, single submitter literature only
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723381 SCV000226578 pathogenic not provided 2015-04-13 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000056372 SCV000696927 pathogenic Cystic fibrosis 2017-01-27 criteria provided, single submitter clinical testing Variant summary: The CFTR c.2834C>T (p.Ser945Leu) variant located in the ABC transporter type 1, transmembrane domain (via InterPro) involves the alteration of a conserved nucleotide, which 5/5 in silico tools predict a damaging outcome. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 12/121334, which does not exceed the estimated maximal expected allele frequency for a pathogenic CFTR variant 1/77. Multiple publications cite the variant in affected individuals, along with clinical diagnostic laboratories/reputable databases classified this variant as pathogenic. Taken together, this variant is classified as pathogenic.
Mendelics RCV000056372 SCV000886264 pathogenic Cystic fibrosis 2018-11-05 criteria provided, single submitter clinical testing
PharmGKB RCV000660828 SCV000783067 drug response ivacaftor response - Efficacy 2018-03-26 reviewed by expert panel curation PharmGKB Level of Evidence 1A: Annotation for a variant-drug combination in a CPIC or medical society-endorsed PGx guideline, or implemented at a PGRN site or in another major health system.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000723381 SCV000889300 pathogenic not provided 2018-08-24 criteria provided, single submitter clinical testing

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