Submissions for variant NM_000138.5(FBN1):c.3082+8del

gnomAD frequency: 0.00359  dbSNP: rs193922196

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000035161	SCV000058802	likely benign	not specified	2011-04-22	criteria provided, single submitter	clinical testing	3082+8delG in intron 24 of FBN1: This variant has not been previously reported, but is not expected to be of clinical significance because it is not located in the conserved region of the splicing consensus sequence.
GeneDx	RCV000181401	SCV000233703	benign	Familial thoracic aortic aneurysm and aortic dissection	2014-08-18	criteria provided, single submitter	clinical testing	The variant is found in TAAD panel(s).
Eurofins Ntd Llc (ga)	RCV000035161	SCV000336718	benign	not specified	2015-11-06	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000467956	SCV000557033	benign	Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection	2024-01-25	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000035161	SCV000603635	benign	not specified	2018-08-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000181401	SCV002608829	benign	Familial thoracic aortic aneurysm and aortic dissection	2017-03-02	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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000181401	SCV003838357	benign	Familial thoracic aortic aneurysm and aortic dissection	2022-04-05	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000029722	SCV000052375	benign	Marfan syndrome	2014-07-17	no assertion criteria provided	clinical testing
Center for Medical Genetics Ghent, University of Ghent	RCV000029722	SCV000786920	uncertain significance	Marfan syndrome	2017-11-07	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001579674	SCV001808109	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000035161	SCV001965350	benign	not specified		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004532412	SCV004743739	benign	FBN1-related disorder	2019-05-17	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).