Submissions for variant NM_000492.4(CFTR):c.2769C>T (p.Ala923=)

gnomAD frequency: 0.00006  dbSNP: rs1800108

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000589671	SCV000110856	uncertain significance	not provided	2017-04-14	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000855556	SCV000696922	likely benign	not specified	2020-12-18	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001440746	SCV001643659	likely benign	Cystic fibrosis	2024-11-07	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001440746	SCV001822122	likely benign	Cystic fibrosis	2021-07-22	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001588903	SCV001822123	uncertain significance	Congenital bilateral aplasia of vas deferens from CFTR mutation	2021-07-22	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001440746	SCV002746157	likely benign	Cystic fibrosis	2015-04-08	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000589671	SCV003799723	likely benign	not provided	2022-08-22	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001826712	SCV002083539	likely benign	CFTR-related disorder	2020-01-21	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV001826712	SCV004712732	likely benign	CFTR-related disorder	2022-02-22	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).