Submissions for variant NM_000138.5(FBN1):c.5511C>T (p.Pro1837=)

gnomAD frequency: 0.00001  dbSNP: rs372767912

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000526713	SCV000627937	likely benign	Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection	2023-12-05	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001188952	SCV001356142	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2019-10-08	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001188952	SCV004000037	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2023-04-29	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.
CeGaT Center for Human Genetics Tuebingen	RCV003392367	SCV004129808	likely benign	not provided	2022-04-01	criteria provided, single submitter	clinical testing	FBN1: BP4, BP7
All of Us Research Program, National Institutes of Health	RCV004003791	SCV004814651	likely benign	Marfan syndrome	2023-12-01	criteria provided, single submitter	clinical testing