Submissions for variant NM_000138.5(FBN1):c.1026C>T (p.Asn342=)

gnomAD frequency: 0.00001  dbSNP: rs769282306

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Color Diagnostics, LLC DBA Color Health	RCV001180127	SCV001344993	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2019-01-20	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001438970	SCV001641851	likely benign	Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection	2020-08-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001180127	SCV002690004	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2022-06-27	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	RCV000663436	SCV004823091	likely benign	Marfan syndrome	2023-12-01	criteria provided, single submitter	clinical testing
Center for Medical Genetics Ghent, University of Ghent	RCV000663436	SCV000786726	likely benign	Marfan syndrome	2017-11-07	no assertion criteria provided	clinical testing