Submissions for variant NM_000492.4(CFTR):c.3588A>T (p.Ser1196=)

gnomAD frequency: 0.00001  dbSNP: rs759202870

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000735009	SCV000863196	uncertain significance	not provided	2018-08-30	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001087984	SCV001013337	likely benign	Cystic fibrosis	2024-03-12	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV002282351	SCV002570629	likely benign	not specified	2022-07-21	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001087984	SCV002618166	likely benign	Cystic fibrosis	2022-02-15	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.	RCV001087984	SCV001454276	likely benign	Cystic fibrosis	2020-09-16	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004540075	SCV004774829	likely benign	CFTR-related disorder	2023-12-20	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).