Submissions for variant NM_001999.4(FBN2):c.7471+6G>A

gnomAD frequency: 0.00205  dbSNP: rs200998513

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000199023	SCV000250131	benign	not specified	2015-02-04	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.
PreventionGenetics, part of Exact Sciences	RCV000199023	SCV000308650	benign	not specified		criteria provided, single submitter	clinical testing
Invitae	RCV000460061	SCV000563003	benign	Congenital contractural arachnodactyly	2024-01-09	criteria provided, single submitter	clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000460061	SCV000781471	likely benign	Congenital contractural arachnodactyly	2016-11-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000460061	SCV001313844	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001579980	SCV001472304	likely benign	not provided	2023-10-11	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000199023	SCV004038943	benign	not specified	2023-08-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004017478	SCV004849018	uncertain significance	Familial thoracic aortic aneurysm and aortic dissection	2015-09-07	criteria provided, single submitter	clinical testing	The c.7471+6G>A intronic alteration consists of a G to A substitution nucleotides after coding exon 58 in the FBN2 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001579980	SCV001809270	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001579980	SCV001964506	likely benign	not provided		no assertion criteria provided	clinical testing