Submissions for variant NM_000138.5(FBN1):c.8049A>G (p.Gln2683=)

gnomAD frequency: 0.00001  dbSNP: rs1208510012

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000608178	SCV000723294	likely benign	not specified	2017-09-28	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.
Color Diagnostics, LLC DBA Color Health	RCV001179639	SCV001344348	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2019-05-04	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002064079	SCV002396719	likely benign	Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection	2021-07-07	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001179639	SCV004240597	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2022-07-08	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV004002551	SCV004844927	likely benign	Marfan syndrome	2023-06-26	criteria provided, single submitter	clinical testing