Submissions for variant NM_000492.4(CFTR):c.2562T>G (p.Thr854=)

gnomAD frequency: 0.44737  dbSNP: rs1042077

Total submissions: 16

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000036519	SCV000060174	benign	not specified	2011-10-20	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000036519	SCV000110854	benign	not specified	2018-01-19	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000036519	SCV000304482	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001095147	SCV000466519	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	RCV001811244	SCV000602970	benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
GeneDx	RCV000036519	SCV000729753	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	RCV000329705	SCV001000273	benign	Cystic fibrosis	2024-02-01	criteria provided, single submitter	clinical testing
CFTR-France	RCV000329705	SCV001169179	benign	Cystic fibrosis	2018-01-29	criteria provided, single submitter	curation	the variant does not result in CFTR-RD neither
Ambry Genetics	RCV000329705	SCV001176856	benign	Cystic fibrosis	2014-11-19	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.
Genome-Nilou Lab	RCV000329705	SCV001748538	benign	Cystic fibrosis	2021-07-01	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV002255262	SCV002529697	benign	Hereditary pancreatitis	2019-12-09	criteria provided, single submitter	curation
Genetic Services Laboratory, University of Chicago	RCV000036519	SCV000150655	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	RCV000036519	SCV001743229	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000036519	SCV001969276	benign	not specified		no assertion criteria provided	clinical testing
Natera, Inc.	RCV001095147	SCV002080773	benign	CFTR-related disorders	2017-03-28	no assertion criteria provided	clinical testing
Payam Genetics Center, General Welfare Department of North Khorasan Province	RCV000329705	SCV003852757	benign	Cystic fibrosis	2023-03-01	no assertion criteria provided	clinical testing