Submissions for variant NM_000138.5(FBN1):c.2952C>A (p.Val984=)

dbSNP: rs374670384

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000460116	SCV000544853	likely benign	Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection	2023-10-22	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001180043	SCV001344892	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2022-06-16	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001180043	SCV003911068	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2023-09-13	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	RCV004000730	SCV004814847	likely benign	Marfan syndrome	2023-10-06	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004533168	SCV004712730	likely benign	FBN1-related disorder	2024-01-19	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).