Submissions for variant NM_000138.5(FBN1):c.6837G>A (p.Gly2279=)

gnomAD frequency: 0.00094  dbSNP: rs140584234

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000266020	SCV000336549	likely benign	not specified	2015-10-27	criteria provided, single submitter	clinical testing
GeneDx	RCV001579820	SCV000513002	likely benign	not provided	2020-09-11	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000551224	SCV000627975	benign	Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection	2024-01-24	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000777851	SCV000913853	benign	Familial thoracic aortic aneurysm and aortic dissection	2018-05-11	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000777851	SCV002664759	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2018-06-11	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.
All of Us Research Program, National Institutes of Health	RCV003995769	SCV004822425	benign	Marfan syndrome	2024-02-05	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001579820	SCV001808618	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001579820	SCV001952163	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004535313	SCV004729495	benign	FBN1-related disorder	2020-06-11	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).