Submissions for variant NM_001999.4(FBN2):c.3351C>T (p.Asp1117=)

gnomAD frequency: 0.00102  dbSNP: rs78484531

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001087913	SCV000287258	benign	Congenital contractural arachnodactyly	2024-01-02	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002310821	SCV000318782	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2017-05-30	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.
Eurofins Ntd Llc (ga)	RCV000726061	SCV000341606	uncertain significance	not provided	2016-06-09	criteria provided, single submitter	clinical testing
GeneDx	RCV000369172	SCV000513015	benign	not specified	2016-02-10	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
CeGaT Center for Human Genetics Tuebingen	RCV000726061	SCV003916979	likely benign	not provided	2023-03-01	criteria provided, single submitter	clinical testing	FBN2: BP4, BP7, BS1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000369172	SCV005202379	benign	not specified	2024-07-28	criteria provided, single submitter	clinical testing