ClinVar Miner

Variants studied for Ehlers-Danlos syndrome, type 4

Coded as:
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 not provided total
445 36 139 95 33 5 716

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 442 36 138 95 33 5 712
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: 21
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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 36 23 92 60 24 0 235
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
CSER_CC_NCGL; University of Washington Medical Center 0 0 3 3 0 0 6
Integrated Genetics/Laboratory Corporation of America 1 4 0 0 0 0 5
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
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
Division of Medical Genetics,University of Versailles 0 1 0 0 0 0 1

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