Submissions for variant NM_000138.5(FBN1):c.2982G>A (p.Glu994=)

dbSNP: rs758745637

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000603189	SCV000728980	likely benign	not specified	2017-12-20	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color Diagnostics, LLC DBA Color Health	RCV001186250	SCV001352623	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2018-12-13	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV003767732	SCV004603943	likely benign	Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection	2024-01-02	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001186250	SCV006002771	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2025-02-22	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.