ClinVar Miner

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

gnomAD frequency: 0.00287  dbSNP: rs28763926
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Total submissions: 18
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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)
Labcorp Genetics (formerly Invitae), Labcorp 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: 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.
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 benign not provided 2024-08-01 criteria provided, single submitter clinical testing FBN2: BS1, BS2
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
Breakthrough Genomics, Breakthrough Genomics RCV000514088 SCV005220040 likely benign not provided criteria provided, single submitter not provided
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

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