ClinVar Miner

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

gnomAD frequency: 0.00046  dbSNP: rs147102633
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 11
Download table as spreadsheet
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: 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) 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.
Labcorp Genetics (formerly Invitae), Labcorp 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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.