ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.3528del (p.Lys1177fs) (rs78984783)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
American College of Medical Genetics and Genomics (ACMG) RCV000029523 SCV000071405 pathogenic Cystic fibrosis 2004-03-03 practice guideline curation Converted during submission to Pathogenic.
CFTR2 RCV000029523 SCV000071479 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000723840 SCV000603072 pathogenic not provided 2017-11-22 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723840 SCV000700673 pathogenic not provided 2017-03-13 criteria provided, single submitter clinical testing
Mendelics RCV000029523 SCV000886226 pathogenic Cystic fibrosis 2018-11-05 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000029523 SCV000052175 pathogenic Cystic fibrosis 2015-04-03 no assertion criteria provided clinical testing
Counsyl RCV000029523 SCV000485159 pathogenic Cystic fibrosis 2015-11-27 no assertion criteria provided clinical testing

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