ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.1408G>A (p.Val470Met) (rs213950)

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Total submissions: 15
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036517 SCV000060172 benign not specified 2008-01-15 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000036517 SCV000110842 benign not specified 2017-09-01 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000036517 SCV000304471 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001095216 SCV000466513 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000036517 SCV000696842 likely benign not specified 2020-11-12 criteria provided, single submitter clinical testing
GeneDx RCV000036517 SCV000714549 benign not specified 2017-12-27 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000007550 SCV001000411 benign Cystic fibrosis 2020-11-25 criteria provided, single submitter clinical testing
CFTR-France RCV000007550 SCV001169205 benign Cystic fibrosis 2018-01-29 criteria provided, single submitter curation the variant does not result in CFTR-RD neither
Ambry Genetics RCV001011421 SCV001171742 benign Inborn genetic diseases 2015-03-17 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.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001286533 SCV001473126 benign none provided 2020-09-01 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000007550 SCV001748536 benign Cystic fibrosis 2021-07-01 criteria provided, single submitter clinical testing
OMIM RCV000007550 SCV000027751 benign Cystic fibrosis 1990-11-01 no assertion criteria provided literature only
Genetic Services Laboratory, University of Chicago RCV000036517 SCV000150654 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000036517 SCV001739675 benign not specified no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000036517 SCV001954444 benign not specified no assertion criteria provided clinical testing

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