Submissions for variant NM_000138.5(FBN1):c.378A>G (p.Gly126=)

gnomAD frequency: 0.00003  dbSNP: rs149611106

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000632036	SCV000753139	likely benign	Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection	2024-07-22	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001188103	SCV001355075	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2019-05-04	criteria provided, single submitter	clinical testing
GeneDx	RCV001636618	SCV001847886	likely benign	not provided	2020-08-04	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001188103	SCV002041978	uncertain significance	Familial thoracic aortic aneurysm and aortic dissection	2021-04-06	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV003996187	SCV004823136	likely benign	Marfan syndrome	2023-12-18	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001636618	SCV005879912	likely benign	not provided	2024-01-15	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000035180	SCV000058822	uncertain significance	not specified	2008-06-10	no assertion criteria provided	clinical testing