Submissions for variant NM_000138.5(FBN1):c.6417T>C (p.His2139=)

gnomAD frequency: 0.00001  dbSNP: rs551162566

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Color Diagnostics, LLC DBA Color Health	RCV001187756	SCV001354627	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2019-06-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001416521	SCV001618703	likely benign	Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection	2019-07-22	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001187756	SCV002658569	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2021-01-04	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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003396796	SCV004121838	likely benign	not specified	2023-10-19	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV004008732	SCV004822444	likely benign	Marfan syndrome	2023-10-23	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV004546613	SCV005041348	likely benign	not provided	2024-04-01	criteria provided, single submitter	clinical testing	FBN1: BP4, BP7