Submissions for variant NM_001999.4(FBN2):c.5031C>T (p.Cys1677=)

gnomAD frequency: 0.00035  dbSNP: rs147452231

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000633623	SCV000716678	likely benign	not provided	2021-01-05	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002315903	SCV000739001	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2017-02-01	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000633623	SCV001157328	likely benign	not provided	2019-11-21	criteria provided, single submitter	clinical testing
Invitae	RCV002063018	SCV002489230	likely benign	Congenital contractural arachnodactyly	2021-07-15	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000633623	SCV004159323	likely benign	not provided	2023-06-01	criteria provided, single submitter	clinical testing	FBN2: BP4, BP7