Submissions for variant NM_000492.3(CFTR):c.-461A>G

gnomAD frequency: 0.00200  dbSNP: rs185028612

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Counsyl	RCV000169416	SCV000220822	likely benign	Cystic fibrosis	2014-10-24	criteria provided, single submitter	literature only
Eurofins Ntd Llc (ga)	RCV000593113	SCV000707840	uncertain significance	not provided	2018-05-17	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000593113	SCV000889311	likely benign	not provided	2019-06-10	criteria provided, single submitter	clinical testing
Invitae	RCV000169416	SCV001676858	likely benign	Cystic fibrosis	2023-09-21	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000593113	SCV001748228	likely benign	not provided	2022-07-01	criteria provided, single submitter	clinical testing	CFTR: BS2
Sema4, Sema4	RCV002257473	SCV002529735	likely benign	Hereditary pancreatitis	2021-06-04	criteria provided, single submitter	curation
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000593113	SCV004564199	likely benign	not provided	2023-04-22	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003937526	SCV004756638	likely benign	CFTR-related condition	2019-06-04	criteria provided, single submitter	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).