Submissions for variant NM_000492.4(CFTR):c.3718-2530A>G

gnomAD frequency: 0.00445  dbSNP: rs213990

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000229747	SCV000285005	benign	Cystic fibrosis	2024-04-22	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000593269	SCV000703051	benign	not specified	2016-10-26	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV002257534	SCV002529717	benign	Hereditary pancreatitis	2020-11-05	criteria provided, single submitter	curation
Ambry Genetics	RCV000229747	SCV002621388	benign	Cystic fibrosis	2014-12-16	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV003736654	SCV004563953	benign	not provided	2023-11-06	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001833243	SCV002075872	likely benign	CFTR-related disorder	2018-04-09	no assertion criteria provided	clinical testing