Submissions for variant NM_000492.4(CFTR):c.3177A>G (p.Leu1059=)

gnomAD frequency: 0.00003  dbSNP: rs1800113

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV004704831	SCV001157173	likely benign	not provided	2024-09-25	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001000389	SCV001362677	likely benign	not specified	2019-08-30	criteria provided, single submitter	clinical testing
Johns Hopkins Genomics, Johns Hopkins University	RCV001250547	SCV001425367	likely benign	Cystic fibrosis	2020-05-08	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001250547	SCV001683299	likely benign	Cystic fibrosis	2024-09-27	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001250547	SCV002610188	likely benign	Cystic fibrosis	2016-10-13	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.
Breakthrough Genomics, Breakthrough Genomics	RCV004704831	SCV005221520	likely benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV001250547	SCV001461256	likely benign	Cystic fibrosis	2020-09-16	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004537228	SCV004726088	likely benign	CFTR-related disorder	2023-12-11	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).