Submissions for variant NM_000138.5(FBN1):c.273T>C (p.Asp91=)

gnomAD frequency: 0.00006  dbSNP: rs375450755

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000534232	SCV000512986	likely benign	not provided	2021-02-03	criteria provided, single submitter	clinical testing	Has not been previously published as pathogenic or benign to our knowledge
Color Diagnostics, LLC DBA Color Health	RCV001178109	SCV001342465	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2018-11-21	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001429070	SCV001631780	likely benign	Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection	2022-10-23	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000438079	SCV001737858	likely benign	not specified	2021-05-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001178109	SCV002749400	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2016-07-24	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	RCV003995956	SCV004823146	likely benign	Marfan syndrome	2024-01-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000534232	SCV005050929	likely benign	not provided	2024-05-01	criteria provided, single submitter	clinical testing	FBN1: BP4, BP7