Submissions for variant NM_000492.4(CFTR):c.2898G>A (p.Thr966=)

gnomAD frequency: 0.00907  dbSNP: rs1800109

Total submissions: 19

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000029508	SCV000052159	likely benign	Cystic fibrosis	2011-08-18	criteria provided, single submitter	curation	Converted during submission to Likely benign.
Eurofins Ntd Llc (ga)	RCV000152996	SCV000202439	benign	not specified	2017-10-12	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000152996	SCV000268871	benign	not specified	2013-02-21	criteria provided, single submitter	clinical testing	Thr966Thr in exon 17 of CFTR: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 1.5% (68/4406) of Af rican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs1800109).
Labcorp Genetics (formerly Invitae), Labcorp	RCV000029508	SCV000285001	benign	Cystic fibrosis	2024-02-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000152996	SCV000304485	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001095179	SCV000466520	uncertain significance	CFTR-related disorder	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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001529602	SCV000602992	benign	not provided	2023-11-22	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV001529602	SCV000889302	benign	not provided	2020-09-08	criteria provided, single submitter	clinical testing
Johns Hopkins Genomics, Johns Hopkins University	RCV000029508	SCV001167217	likely benign	Cystic fibrosis	2019-09-16	criteria provided, single submitter	clinical testing
CFTR-France	RCV000029508	SCV001169176	benign	Cystic fibrosis	2018-01-29	criteria provided, single submitter	curation	the variant does not result in CFTR-RD neither
Ambry Genetics	RCV000029508	SCV001177842	benign	Cystic fibrosis	2014-12-03	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.
GeneDx	RCV001529602	SCV001823274	likely benign	not provided	2020-12-23	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 9788722, 29178639, 23378595, 27022295, 7525450, 25797027)
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV000029508	SCV002507398	likely benign	Cystic fibrosis	2021-12-17	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001529602	SCV003917554	benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	CFTR: BP4, BP7, BS1, BS2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001529602	SCV001743314	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000152996	SCV001958564	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000152996	SCV001969728	benign	not specified		no assertion criteria provided	clinical testing
Natera, Inc.	RCV001095179	SCV002083558	likely benign	CFTR-related disorder	2018-03-22	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001095179	SCV002507482	likely benign	CFTR-related disorder	2021-12-17	no assertion criteria provided	clinical testing