Submissions for variant NM_000138.5(FBN1):c.7533T>C (p.Cys2511=)

gnomAD frequency: 0.00002  dbSNP: rs750331217

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000587371	SCV000695601	likely benign	not specified	2019-08-28	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001185313	SCV001351500	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2018-12-21	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002491162	SCV002801924	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	2021-08-04	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001185313	SCV003855932	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2023-01-08	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV003767334	SCV004578378	likely benign	Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection	2024-11-30	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV004002409	SCV004816757	likely benign	Marfan syndrome	2024-01-11	criteria provided, single submitter	clinical testing