Submissions for variant NM_000138.5(FBN1):c.2637C>T (p.Leu879=)

gnomAD frequency: 0.00004  dbSNP: rs202163602

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000769645	SCV000901046	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2016-09-07	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000769645	SCV000908172	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2018-10-18	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000864852	SCV001005718	likely benign	Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection	2024-01-11	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001174727	SCV001338006	likely benign	not specified	2020-01-06	criteria provided, single submitter	clinical testing
GeneDx	RCV001527982	SCV001739138	likely benign	not provided	2021-03-30	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000769645	SCV002740006	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2018-09-07	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	RCV001527982	SCV004129818	likely benign	not provided	2023-04-01	criteria provided, single submitter	clinical testing	FBN1: BP4, BP7
All of Us Research Program, National Institutes of Health	RCV003999930	SCV004814888	likely benign	Marfan syndrome	2024-02-05	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001527982	SCV001808887	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001527982	SCV001970052	likely benign	not provided		no assertion criteria provided	clinical testing