ClinVar Miner

Variants studied for Ehlers-Danlos syndrome

Included ClinVar conditions (34):
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
681 128 1258 542 369 20 2868

Gene and significance breakdown #

Total genes and gene combinations: 36
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
COL3A1 442 40 139 95 34 5 716
FLNA 47 23 148 76 92 2 383
COL5A1 39 6 182 99 51 3 372
ZNF469 4 0 187 53 27 0 270
COL5A2 8 5 123 46 37 2 218
ADAMTS2 3 4 134 41 46 0 203
COL1A2 39 22 79 43 29 1 201
PLOD1 14 3 117 47 13 0 177
COL5A1, LOC101448202 8 3 47 25 14 1 98
PRDM5 6 0 32 3 3 0 44
CHST14 10 2 6 2 2 3 23
FKBP14 5 0 7 3 6 0 21
FLNA, LOC107988032 1 0 12 1 5 0 19
COL1A1 12 1 4 0 0 0 17
SLC39A13 2 0 6 5 3 0 16
C1R 14 14 1 0 0 0 15
B4GALT7 7 0 3 1 2 2 14
B3GALT6 6 0 5 1 1 0 13
TNXB 0 1 10 0 0 1 12
DSE 2 0 2 1 2 0 7
AEBP1 5 1 0 0 0 0 5
LOC106780803, TNXB 0 0 5 0 0 0 5
C1S 2 2 2 0 0 0 4
COL3A1, MIR3606 2 0 0 0 0 0 2
MFN2, PLOD1 0 0 0 0 2 0 2
ADAMTS2, LOC112997581 1 0 0 0 0 0 1
ALB 1 0 0 0 0 0 1
COL3A1, COL5A2, MIR1245A, MIR1245B, MIR3129, MIR3606, SLC40A1, WDR75 1 0 0 0 0 0 1
DNASE1L1, EMD, FLNA, RPL10, TAZ 0 0 1 0 0 0 1
EMD, FLNA 0 0 1 0 0 0 1
FBN2 0 0 1 0 0 0 1
MED12 0 0 1 0 0 0 1
MYH11 0 0 1 0 0 0 1
NOTCH1 0 0 1 0 0 0 1
SLC2A10 0 0 1 0 0 0 1
TGFBR1 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 53
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 113 65 763 391 289 0 1621
Illumina Clinical Services Laboratory,Illumina 1 0 395 145 74 0 615
Collagen Diagnostic Laboratory,University of Washington 411 0 0 0 0 0 411
OMIM 148 0 0 0 0 0 148
Fulgent Genetics 12 1 51 0 0 0 64
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 34 0 0 0 34
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 3 30 0 33
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 30 0 30
Claritas Genomics 8 15 6 0 0 0 29
Center for Human Genetics, Inc 2 3 12 8 0 0 25
GenomeConnect, ClinGen 0 0 0 0 0 18 18
Division Human Genetics,Medical University Innsbruck 16 0 0 0 0 0 16
University of Washington Center for Mendelian Genomics,University of Washington 0 16 0 0 0 0 16
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 13 0 0 0 0 0 13
Baylor Miraca Genetics Laboratories, 5 1 3 0 0 0 9
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 8 0 0 0 8
Counsyl 1 4 2 0 0 0 7
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 1 5 0 0 0 7
Integrated Genetics/Laboratory Corporation of America 2 4 0 0 0 0 6
CSER_CC_NCGL; University of Washington Medical Center 0 0 3 3 0 0 6
Blueprint Genetics, 0 2 3 0 0 0 5
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 3 1 0 0 0 4
Pediatric Services,National Institutes of Health, Clinical Center 0 0 4 0 0 0 4
Clinical Genetics Group,University of Otago 4 0 0 0 0 0 4
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 1 0 2 0 3
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 2 0 1 0 3
SIB Swiss Institute of Bioinformatics 0 1 0 0 2 0 3
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 2 1 0 3
Institute of Human Genetics,Cologne University 0 0 2 0 0 0 2
GeneReviews 2 0 0 0 0 0 2
UniProtKB/Swiss-Prot 0 0 0 0 0 2 2
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 0 2
Institute of Human Genetics,University Medical Center Hamburg-Eppendorf 0 2 0 0 0 0 2
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 0 2 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 0 1 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 1
Hehr Laboratory,Center for Human Genetics - University of Regensburg 0 1 0 0 0 0 1
Mendelics 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,Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 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
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 0 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 0 1 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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 0 1
Laboratoire de Cytogenetique,Hospices Civils de Lyon 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 1 0 0 0 0 0 1
Division of Medical Genetics,University of Versailles 0 1 0 0 0 0 1
University of Washington Department of Laboratory Medicine,University of Washington 0 0 0 0 1 0 1

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