Submissions for variant NM_000138.5(FBN1):c.5964C>T (p.Thr1988=)

gnomAD frequency: 0.00034  dbSNP: rs113022801

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000178682	SCV000230809	uncertain significance	not provided	2015-05-22	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001176082	SCV000738894	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2017-09-11	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.
Invitae	RCV001079202	SCV001018078	benign	Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection	2023-10-29	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001000130	SCV001156575	benign	not specified	2019-05-23	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001176082	SCV001339920	benign	Familial thoracic aortic aneurysm and aortic dissection	2019-03-24	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV003996575	SCV004814616	benign	Marfan syndrome	2024-01-11	criteria provided, single submitter	clinical testing