Submissions for variant NM_001999.4(FBN2):c.7181T>C (p.Ile2394Thr)

gnomAD frequency: 0.00287  dbSNP: rs28763926

Total submissions: 17

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000194253	SCV000247368	likely benign	not specified	2015-04-23	criteria provided, single submitter	clinical testing
GeneDx	RCV000514088	SCV000250129	likely benign	not provided	2021-07-20	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 29307552, 29307550)
Invitae	RCV000228339	SCV000287277	likely benign	Congenital contractural arachnodactyly	2024-01-31	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000194253	SCV000308645	likely benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002310753	SCV000317904	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2018-09-07	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.
Illumina Laboratory Services, Illumina	RCV000228339	SCV000452553	benign	Congenital contractural arachnodactyly	2018-01-13	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.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514088	SCV000609686	likely benign	not provided	2017-03-06	criteria provided, single submitter	clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000659630	SCV000781470	likely benign	Connective tissue disorder	2016-11-01	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000514088	SCV001158784	benign	not provided	2023-10-13	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002277455	SCV002565961	benign	Ehlers-Danlos syndrome	2022-01-20	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV000659630	SCV002566593	benign	Connective tissue disorder	2021-03-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000514088	SCV003916975	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	FBN2: BS1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000194253	SCV004029401	likely benign	not specified	2023-07-29	criteria provided, single submitter	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000514088	SCV001798757	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000514088	SCV001808075	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000514088	SCV001929160	likely benign	not provided		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000514088	SCV001963086	likely benign	not provided		no assertion criteria provided	clinical testing