Submissions for variant NM_001999.4(FBN2):c.8046G>T (p.Ser2682=)

gnomAD frequency: 0.00003  dbSNP: rs771507975

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000605181	SCV000728429	benign	not specified	2017-08-03	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	RCV000861537	SCV001001891	likely benign	Congenital contractural arachnodactyly	2024-01-08	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002413758	SCV002675844	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2022-07-23	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
PreventionGenetics, part of Exact Sciences	RCV003917953	SCV004735256	likely benign	FBN2-related condition	2019-03-04	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).