Submissions for variant NM_000492.4(CFTR):c.1210-13G>T

gnomAD frequency: 0.09791  dbSNP: rs10229820

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000150332	SCV000197434	benign	not specified	2014-02-28	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000150332	SCV000202436	benign	not specified	2014-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000315118	SCV000466507	benign	CFTR-related disorders	2018-01-12	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	RCV001812119	SCV000602974	benign	not provided	2023-11-30	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001172258	SCV001170543	likely benign	Inborn genetic diseases	2018-10-09	criteria provided, single submitter	clinical testing	Other strong data
Invitae	RCV001510799	SCV001717928	benign	Cystic fibrosis	2021-12-18	criteria provided, single submitter	clinical testing
Mendelics	RCV000150332	SCV002518187	benign	not specified	2022-05-04	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002498690	SCV002808386	benign	Bronchiectasis with or without elevated sweat chloride 1; Cystic fibrosis; Hereditary pancreatitis; Congenital bilateral aplasia of vas deferens from CFTR mutation	2022-02-02	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003982907	SCV004799758	benign	CFTR-related condition	2021-12-29	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).
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000150332	SCV001978007	benign	not specified		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000150332	SCV001978473	benign	not specified		no assertion criteria provided	clinical testing
Natera, Inc.	RCV000315118	SCV002080559	benign	CFTR-related disorders	2017-05-10	no assertion criteria provided	clinical testing