Submissions for variant NM_001999.4(FBN2):c.6057G>A (p.Glu2019=)

gnomAD frequency: 0.00003  dbSNP: rs752114619

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000633644	SCV000754896	likely benign	Congenital contractural arachnodactyly	2023-02-21	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002358775	SCV002654625	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2022-02-14	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
PreventionGenetics, part of Exact Sciences	RCV003953118	SCV004766601	likely benign	FBN2-related condition	2019-07-25	criteria provided, single submitter	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).
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001579435	SCV001807221	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001579435	SCV001968333	likely benign	not provided		no assertion criteria provided	clinical testing