ClinVar Miner

Variants studied for Ehlers-Danlos syndrome, type 4

Coded as:
Minimum submission review status: Collection method:
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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 not provided total
455 55 169 65 18 5 734

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
COL3A1 452 55 168 65 18 5 730
COL3A1, MIR3606 2 0 0 0 0 0 2
COL3A1, COL5A2, MIR1245A, MIR1245B, MIR3129, MIR3606, SLC40A1, WDR75 1 0 0 0 0 0 1
FBN2 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Collagen Diagnostic Laboratory,University of Washington 411 0 0 0 0 0 411
Invitae 47 36 123 24 1 0 231
Illumina Clinical Services Laboratory,Illumina 0 0 31 37 12 0 80
OMIM 31 0 0 0 0 0 31
Center for Human Genetics, Inc 2 2 7 3 0 0 14
Mendelics 1 0 0 1 4 0 6
CSER _CC_NCGL, University of Washington 0 0 3 3 0 0 6
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 5 0 0 0 0 5
Integrated Genetics/Laboratory Corporation of America 1 4 0 0 0 0 5
Fulgent Genetics,Fulgent Genetics 2 0 3 0 0 0 5
GenomeConnect, ClinGen 0 0 0 0 0 5 5
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 1 0 2 0 3
Blueprint Genetics 0 2 1 0 0 0 3
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 0 2 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 0 2
Baylor Genetics 0 1 0 0 0 0 1
Institute of Human Genetics,University of Goettingen 1 0 0 0 0 0 1
Institute of Human Genetics,Cologne University 0 0 1 0 0 0 1
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 0 1 0 0 0 0 1
Institute of Human Genetics,University Medical Center Hamburg-Eppendorf 0 1 0 0 0 0 1
Centre for Translational Omics - GOSgene,University College London 0 1 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 1 0 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 1 0 0 0 0 0 1
Division of Medical Genetics at University of Versailles, Paris Saclay University 0 1 0 0 0 0 1

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