ClinVar Miner

Variants in gene FBLN1

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
1 0 98 85 98 262

Condition and significance breakdown #

Total conditions: 7
Download table as spreadsheet
Condition pathogenic uncertain significance likely benign benign total
not provided 0 46 60 95 192
not specified 0 57 12 2 71
FBLN1-related disorder 0 3 22 5 30
Synpolydactyly type 2 0 5 1 2 8
Autosomal recessive syndrome of syndactyly, undescended testes and central nervous system defects 1 0 0 0 1
EBV-positive nodal T- and NK-cell lymphoma 0 0 1 0 1
Fetal akinesia deformation sequence 1; Arthrogryposis multiplex congenita 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 21
Download table as spreadsheet
Submitter pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 0 34 43 30 107
GeneDx 0 0 1 70 71
Ambry Genetics 0 56 7 0 63
Breakthrough Genomics, Breakthrough Genomics 0 1 3 48 52
PreventionGenetics, part of Exact Sciences 0 3 22 5 30
Eurofins Ntd Llc (ga) 0 11 4 2 17
CeGaT Center for Human Genetics Tuebingen 0 1 13 1 15
Genome-Nilou Lab 0 0 0 2 2
OMIM 0 1 0 0 1
Baylor Genetics 0 1 0 0 1
Revvity Omics, Revvity 0 1 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 1 0 1
Department of Neuroscience, King Faisal Specialist Hospital 1 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 1
Cirak Lab, University Hospital Cologne 0 1 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 1
Department of Clinical Pathology, School of Medicine, Fujita Health University 0 0 1 0 1

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.