Submissions for variant NM_000492.4(CFTR):c.1227T>C (p.Phe409=)

gnomAD frequency: 0.00004  dbSNP: rs778548877

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000388212	SCV000332916	uncertain significance	not provided	2015-07-02	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001396160	SCV001597883	likely benign	Cystic fibrosis	2024-09-12	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001396160	SCV001822041	likely benign	Cystic fibrosis	2021-07-22	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001396160	SCV002663253	likely benign	Cystic fibrosis	2021-10-12	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.	RCV001828184	SCV002080568	likely benign	CFTR-related disorder	2018-07-19	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV001828184	SCV004779423	likely benign	CFTR-related disorder	2022-06-14	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).