ClinVar Miner

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

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000007617 SCV000074411 benign Cystic fibrosis 2020-12-07 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 RCV001009505 SCV000466517 likely benign CFTR-related disorders 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001282580 SCV000602989 likely benign none provided 2020-03-28 criteria provided, single submitter clinical testing
Counsyl RCV000007617 SCV000791753 likely benign Cystic fibrosis 2017-05-23 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000046398 SCV001134120 likely benign not provided 2019-12-13 criteria provided, single submitter clinical testing
CFTR-France RCV001009505 SCV001169600 pathogenic CFTR-related disorders 2015-07-03 criteria provided, single submitter curation
Ambry Genetics RCV001012623 SCV001173099 benign Inborn genetic diseases 2019-05-21 criteria provided, single submitter clinical testing General population or sub-population frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
OMIM RCV000007617 SCV000027818 uncertain significance Cystic fibrosis 1994-05-15 no assertion criteria provided literature only
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000007617 SCV000052133 benign Cystic fibrosis 2015-08-14 no assertion criteria provided clinical testing

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