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

gnomAD frequency: 0.56732  dbSNP: rs213950

Total submissions: 20

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000036517	SCV000060172	benign	not specified	2008-01-15	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000036517	SCV000110842	benign	not specified	2017-09-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV001095216	SCV000304471	benign	CFTR-related disorder	2021-11-19	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Illumina Laboratory Services, Illumina	RCV001095216	SCV000466513	likely benign	CFTR-related disorder	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	2024-02-01	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	RCV000007550	SCV001171742	benign	Cystic fibrosis	2015-03-17	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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	RCV001810835	SCV001473126	benign	not provided	2023-11-30	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000007550	SCV001748536	benign	Cystic fibrosis	2021-07-01	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV000007550	SCV002507399	benign	Cystic fibrosis	2020-04-03	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
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000036517	SCV001954444	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000036517	SCV001963943	benign	not specified		no assertion criteria provided	clinical testing
Natera, Inc.	RCV001095216	SCV002080592	benign	CFTR-related disorder	2017-03-28	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001095216	SCV002507483	benign	CFTR-related disorder	2020-04-03	no assertion criteria provided	clinical testing
Payam Genetics Center, General Welfare Department of North Khorasan Province	RCV000007550	SCV003852756	benign	Cystic fibrosis	2023-03-01	no assertion criteria provided	clinical testing