Submissions for variant NM_000492.4(CFTR):c.3564G>A (p.Ser1188=)

gnomAD frequency: 0.00009  dbSNP: rs146804928

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000078998	SCV000110867	uncertain significance	not provided	2013-06-20	criteria provided, single submitter	clinical testing
Counsyl	RCV000666455	SCV000790751	likely benign	Cystic fibrosis	2017-04-06	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000780156	SCV000917203	likely benign	not specified	2019-08-28	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000666455	SCV001006710	likely benign	Cystic fibrosis	2024-01-19	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000666455	SCV002618854	likely benign	Cystic fibrosis	2020-08-28	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.
Natera, Inc.	RCV001831818	SCV002075844	likely benign	CFTR-related disorder	2017-11-21	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV001831818	SCV004717399	likely benign	CFTR-related disorder	2021-05-13	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).