Submissions for variant NM_000492.4(CFTR):c.4389G>A (p.Gln1463=) (rs1800136)

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics	RCV000079007	SCV000110876	benign	not specified	2018-01-25	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine	RCV000079007	SCV000197443	benign	not specified	2013-09-27	criteria provided, single submitter	clinical testing	Gln1463Gln in exon 27 of CFTR: This variant does not alter an amino acid and is not in a consensus splice sequence. It was identified in 21.6% (1861/8600) of European American and 24.4% (1077/4406) of African American chromosomose from a broad population screened by the NHLBI Exome Sequencing Project (http://evs.gs.w ashington.edu).
PreventionGenetics,PreventionGenetics	RCV000079007	SCV000304499	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV001095184	SCV000466531	likely benign	CFTR-related disorders	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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories	RCV001282299	SCV000602976	benign	none provided	2020-09-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000079007	SCV000729755	benign	not specified	2018-02-07	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV000353586	SCV001000412	benign	Cystic fibrosis	2020-12-05	criteria provided, single submitter	clinical testing
CFTR-France	RCV000353586	SCV001169201	benign	Cystic fibrosis	2018-01-29	criteria provided, single submitter	curation	the variant does not result in CFTR-RD neither
Ambry Genetics	RCV001022402	SCV001184133	benign	Inborn genetic diseases	2014-11-19	criteria provided, single submitter	clinical testing	General population or sub-population frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Genetic Services Laboratory, University of Chicago	RCV000079007	SCV000150656	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.