Submissions for variant NM_000138.5(FBN1):c.639C>T (p.Val213=)

gnomAD frequency: 0.00001  dbSNP: rs543984363

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Color Diagnostics, LLC DBA Color Health	RCV001182183	SCV001347539	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2019-10-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002068309	SCV002346658	likely benign	Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection	2022-10-26	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002491529	SCV002798785	likely benign	Ectopia lentis 1, isolated, autosomal dominant; Marfan syndrome; MASS syndrome; Stiff skin syndrome; Weill-Marchesani syndrome 2, dominant; Acromicric dysplasia; Geleophysic dysplasia 2; Progeroid and marfanoid aspect-lipodystrophy syndrome	2022-02-11	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001182183	SCV003863099	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2023-01-16	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	RCV004008282	SCV004823119	likely benign	Marfan syndrome	2024-02-05	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV004720780	SCV005331262	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	FBN1: BP4, BP7