Submissions for variant NM_000492.4(CFTR):c.869+11C>T

gnomAD frequency: 0.07590  dbSNP: rs1800503

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000079014	SCV000110883	benign	not specified	2016-05-19	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000079014	SCV000197433	benign	not specified	2013-02-21	criteria provided, single submitter	clinical testing	869+11C>T in intron 7 of CFTR: This variant is not expected to have clinical sig nificance because it is not located within the conserved splice consensus sequen ce. It has been identified in 16.3% (1400/8596) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.wa shington.edu/EVS; dbSNP rs1800503).
PreventionGenetics, part of Exact Sciences	RCV000079014	SCV000304504	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001095296	SCV000466506	benign	CFTR-related disorders	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001647052	SCV000602973	benign	not provided	2023-11-30	criteria provided, single submitter	clinical testing
CFTR-France	RCV000402385	SCV001169196	benign	Cystic fibrosis	2018-01-29	criteria provided, single submitter	curation	the variant does not result in CFTR-RD neither
Invitae	RCV000402385	SCV001717926	benign	Cystic fibrosis	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000402385	SCV001748456	benign	Cystic fibrosis	2021-07-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001647052	SCV001857418	benign	not provided	2018-06-21	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV000402385	SCV002507395	benign	Cystic fibrosis	2022-03-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000402385	SCV002684492	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.
Natera, Inc.	RCV000402385	SCV001456052	benign	Cystic fibrosis	2020-09-16	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001095296	SCV002507479	benign	CFTR-related disorders	2022-03-03	no assertion criteria provided	clinical testing