Submissions for variant NM_000492.3(CFTR):c.1210-12T[9]

dbSNP: rs1805177

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000150334	SCV000197436	benign	not specified	2014-04-24	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000150334	SCV000224840	benign	not specified	2014-09-29	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000390508	SCV000466509	likely benign	Cystic fibrosis	2016-06-14	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000515121	SCV000610226	likely benign	not provided	2017-08-16	criteria provided, single submitter	clinical testing
CFTR-France	RCV000390508	SCV001169202	benign	Cystic fibrosis	2018-01-29	criteria provided, single submitter	curation	the variant does not result in CFTR-RD neither
Ambry Genetics	RCV001172256	SCV001170541	likely benign	Inborn genetic diseases	2018-11-06	criteria provided, single submitter	clinical testing	Intact protein function observed by in vitro/ex vivo assays;Intronic alteration with no splicing impact by rt-pcr analysis or other splicing assay;Other strong data
Invitae	RCV000390508	SCV001717927	benign	Cystic fibrosis	2021-12-18	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000515121	SCV002058053	benign	not provided	2023-11-28	criteria provided, single submitter	clinical testing
Mendelics	RCV000150334	SCV002518199	benign	not specified	2022-05-04	criteria provided, single submitter	clinical testing
GeneReviews	RCV000390508	SCV001652693	not provided	Cystic fibrosis		no assertion provided	literature only	The severity of lung disease in individuals heterozygous or homozygous for p.Arg117His depends on the presence of a variation in the poly T tract of intron 9, c.1210-12T[5_9] [Massie et al 2001]. Individuals with a CF-causing variant plus the 5T variant in cis with p.Arg117His usually develop the lung disease of CF, but those individuals with p.Arg117His and the 7T variant or the 9T variant have a highly variable phenotype that can range from no symptoms to mild lung disease [Kiesewetter et al 1993, Chmiel et al 1999].
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000515121	SCV002034270	likely benign	not provided		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000515121	SCV002034896	likely benign	not provided		no assertion criteria provided	clinical testing