ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.1666A>G (p.Ile556Val) (rs75789129)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000174251 SCV000602989 likely benign not specified 2017-03-27 criteria provided, single submitter clinical testing
Counsyl RCV000007617 SCV000791753 likely benign Cystic fibrosis 2017-05-23 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000174251 SCV000225525 benign not specified 2014-10-17 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000007617 SCV000466517 likely benign Cystic fibrosis 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000007617 SCV000052133 benign Cystic fibrosis 2015-08-14 no assertion criteria provided clinical testing
Invitae RCV000007617 SCV000074411 benign Cystic fibrosis 2017-12-11 criteria provided, single submitter clinical testing
OMIM RCV000007617 SCV000027818 uncertain significance Cystic fibrosis 1994-05-15 no assertion criteria provided literature only

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