Submissions for variant NM_000138.5(FBN1):c.1415= (p.Tyr472=)

dbSNP: rs113936729

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000244750	SCV000319287	benign	Familial thoracic aortic aneurysm and aortic dissection	2015-08-07	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV004714544	SCV000603602	benign	not provided	2024-11-27	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001520057	SCV001729065	benign	Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection	2025-02-04	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004714544	SCV005295688	benign	not provided		criteria provided, single submitter	not provided
All of Us Research Program, National Institutes of Health	RCV004804857	SCV005424910	benign	Marfan syndrome	2024-10-02	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000223162	SCV000271296	not provided	not specified	2015-03-09	no assertion provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000223162	SCV001741459	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000223162	SCV001807698	benign	not specified		no assertion criteria provided	clinical testing