Submissions for variant NM_001999.4(FBN2):c.1812C>T (p.Ala604=)

gnomAD frequency: 0.00001  dbSNP: rs745811885

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000469340	SCV000563047	benign	Congenital contractural arachnodactyly	2023-12-09	criteria provided, single submitter	clinical testing
GeneDx	RCV001662447	SCV001872917	likely benign	not provided	2021-03-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002413307	SCV002714085	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2018-01-03	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.
PreventionGenetics, part of Exact Sciences	RCV003932768	SCV004751545	likely benign	FBN2-related condition	2019-06-05	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).