Submissions for variant NM_000138.5(FBN1):c.1278G>T (p.Pro426=)

dbSNP: rs113245313

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000871953	SCV001013696	likely benign	Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection	2024-06-21	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001175846	SCV001339622	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2019-01-27	criteria provided, single submitter	clinical testing
Institute of Human Genetics, University Hospital Muenster	RCV002287450	SCV002577977	likely benign	Marfan syndrome	2022-05-03	criteria provided, single submitter	clinical testing	ACMG categories: BP4,BP6,BP7
Ambry Genetics	RCV001175846	SCV004078975	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2023-09-05	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
All of Us Research Program, National Institutes of Health	RCV002287450	SCV004823064	likely benign	Marfan syndrome	2023-12-13	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV005231925	SCV005879486	likely benign	not provided	2024-08-21	criteria provided, single submitter	clinical testing