Submissions for variant NM_000492.4(CFTR):c.2620-15C>G

gnomAD frequency: 0.00212  dbSNP: rs139379077

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000029499	SCV000052150	uncertain	Cystic fibrosis	2011-08-18	criteria provided, single submitter	curation	Converted during submission to Uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000029499	SCV000284999	benign	Cystic fibrosis	2024-01-31	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000244736	SCV000304483	likely benign	not specified		criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000759758	SCV000603043	benign	not provided	2023-10-19	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000244736	SCV000700535	benign	not specified	2016-11-29	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000759758	SCV000889295	benign	not provided	2022-09-19	criteria provided, single submitter	clinical testing
Mendelics	RCV000029499	SCV001137483	likely benign	Cystic fibrosis	2019-05-28	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001158764	SCV001320419	uncertain significance	CFTR-related disorder	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Johns Hopkins Genomics, Johns Hopkins University	RCV000029499	SCV001711953	benign	Cystic fibrosis	2021-05-25	criteria provided, single submitter	clinical testing
GeneDx	RCV000759758	SCV001793092	likely benign	not provided	2019-08-14	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 19017867, 20100616, 16251901, 16128988, 27264265, 9521595, 24272871, 9272157, 29174009, 25900089, 29807875, 28408918, 26500004, 28040058, 28546993, 27884173, 10875853, 15070876)
Genome-Nilou Lab	RCV000029499	SCV001822112	likely benign	Cystic fibrosis	2021-07-22	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV002257362	SCV002529698	likely benign	Hereditary pancreatitis	2021-04-04	criteria provided, single submitter	curation
Institute of Human Genetics, University of Leipzig Medical Center	RCV000029499	SCV002574059	uncertain significance	Cystic fibrosis	2022-09-05	criteria provided, single submitter	curation	This variant was identified in 1 patient with a clinically confirmed diagnosis of cystic fibrosis. The variant was classified in the context of a project re-classifying variants in the German Cystic Fibrosis Registry (Muko.e.V.). Link: https://www.muko.info/angebote/qualitaetsmanagement/register/cf-einrichtungen/mukoweb. Criteria applied: PM3, PP4, BS2
Ambry Genetics	RCV000029499	SCV002740787	benign	Cystic fibrosis	2014-11-26	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
CeGaT Center for Human Genetics Tuebingen	RCV000759758	SCV003917553	likely benign	not provided	2024-06-01	criteria provided, single submitter	clinical testing	CFTR: BS2