ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.1516A>G (p.Ile506Val) (rs1800091)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000007551 SCV000284995 benign Cystic fibrosis 2020-12-04 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000245320 SCV000304472 likely benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000245320 SCV000331550 benign not specified 2016-07-06 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000245320 SCV000601048 benign not specified 2016-12-05 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001282755 SCV000603019 uncertain significance Hereditary pancreatitis 2020-08-31 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759754 SCV000889286 benign not provided 2016-12-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV001011880 SCV001172259 benign Inborn genetic diseases 2015-02-12 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Nilou-Genome Lab RCV000007551 SCV001653485 uncertain significance Cystic fibrosis 2021-05-18 criteria provided, single submitter clinical testing
GeneDx RCV000759754 SCV001772723 likely benign not provided 2021-04-05 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 27131402, 19914443, 33260873, 1977306, 32026723, 19324992, 19359498, 22975760)
OMIM RCV000007551 SCV000027752 benign Cystic fibrosis 1990-10-01 no assertion criteria provided literature only
Natera, Inc. RCV000007551 SCV001453963 uncertain significance Cystic fibrosis 2017-11-17 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000759754 SCV001744213 likely benign not provided no assertion criteria provided clinical testing

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