Submissions for variant NM_001999.4(FBN2):c.7380C>T (p.Cys2460=)

gnomAD frequency: 0.00046  dbSNP: rs147102633

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000125077	SCV000168517	benign	not specified	2013-03-29	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.
Ambry Genetics	RCV002311016	SCV000317315	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2016-08-26	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.
Eurofins Ntd Llc (ga)	RCV000726425	SCV000344530	uncertain significance	not provided	2016-09-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000274543	SCV000452549	benign	Congenital contractural arachnodactyly	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae	RCV000274543	SCV000630255	benign	Congenital contractural arachnodactyly	2024-01-01	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000274543	SCV000743974	benign	Congenital contractural arachnodactyly	2017-11-24	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002277264	SCV002565964	likely benign	Ehlers-Danlos syndrome	2021-01-06	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000125077	SCV004029381	benign	not specified	2023-07-21	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000726425	SCV004159315	likely benign	not provided	2022-11-01	criteria provided, single submitter	clinical testing	FBN2: BP4, BP7, BS1
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000274543	SCV000745924	likely benign	Congenital contractural arachnodactyly	2017-06-23	no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000726425	SCV001965217	likely benign	not provided		no assertion criteria provided	clinical testing