Submissions for variant NM_000492.4(CFTR):c.2559T>C (p.Ile853=)

gnomAD frequency: 0.00014  dbSNP: rs1800104

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000281657	SCV000466518	uncertain significance	Cystic fibrosis	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000281657	SCV000625733	likely benign	Cystic fibrosis	2024-01-31	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000593086	SCV000702203	uncertain significance	not provided	2016-09-27	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000593086	SCV000883567	likely benign	not provided	2020-12-28	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000781229	SCV000919133	likely benign	not specified	2020-11-12	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000281657	SCV001176824	likely benign	Cystic fibrosis	2015-10-29	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000593086	SCV001470295	likely benign	not provided	2020-04-13	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000281657	SCV001653408	likely benign	Cystic fibrosis	2021-05-18	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000593086	SCV001747525	likely benign	not provided	2024-06-01	criteria provided, single submitter	clinical testing	CFTR: BP4, BP7
Sema4, Sema4	RCV002257658	SCV002529695	likely benign	Hereditary pancreatitis	2021-03-03	criteria provided, single submitter	curation