ClinVar Miner

Variants studied for Ehlers-Danlos syndrome, classic type

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
595 248 2263 3156 838 45 6872

Gene and significance breakdown #

Total genes and gene combinations: 21
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
COL5A1 194 74 736 1257 462 25 2603
COL1A2 310 122 647 682 60 0 1821
COL5A2 30 33 688 935 173 11 1785
COL5A1, LOC101448202 53 17 181 282 143 5 639
COL1A1 1 0 2 0 0 2 4
COL3A1, COL5A2 2 1 0 0 0 0 3
AEBP1 1 0 1 0 0 0 2
CASD1, COL1A2, SGCE 1 0 1 0 0 0 2
ABO, ADAMTS13, ADAMTSL2, AK8, BARHL1, BRD3, CACFD1, CEL, CFAP77, COL5A1, DBH, DDX31, FAM163B, FCN1, FCN2, GBGT1, GFI1B, GLT6D1, GTF3C4, GTF3C5, KCNT1, LCN1, LCN9, LINC02907, MED22, MED27, MRPS2, MYMK, NTNG2, OBP2A, OBP2B, OLFM1, PAEP, PIERCE1, POMT1, PPP1R26, RALGDS, RAPGEF1, REXO4, RNU6ATAC, RPL7A, RXRA, SARDH, SETX, SLC2A6, SOHLH1, SPACA9, STKLD1, SURF1, SURF2, SURF4, SURF6, TSC1, TTF1, UCK1, VAV2, WDR5 0 0 1 0 0 0 1
C9orf163, CAMSAP1, CARD9, COL5A1, DNLZ, ENTR1, FCN1, FCN2, GLT6D1, GPSM1, INPP5E, KCNT1, LCN1, LCN9, LHX3, LINC02907, MRPS2, NACC2, NOTCH1, OBP2A, OLFM1, PAEP, PIERCE1, PMPCA, PPP1R26, QSOX2, SEC16A, SNAPC4, SOHLH1, TMEM250, UBAC1 0 0 1 0 0 0 1
COL1A1, LOC126862586 0 0 0 0 0 1 1
COL3A1, COL5A2, SLC40A1, WDR75 1 0 0 0 0 0 1
COL5A1, LOC101448202, LOC130002964 1 0 0 0 0 0 1
COL5A1, LOC130002964 1 0 0 0 0 0 1
DNAJB6 0 0 0 0 0 1 1
FLNA 0 0 1 0 0 0 1
MED12 0 0 1 0 0 0 1
MYH11 0 0 1 0 0 0 1
SLC2A10 0 0 1 0 0 0 1
TGFBR1 0 1 0 0 0 0 1
THSD7B 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 80
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 546 192 2066 3089 699 0 6592
Illumina Laboratory Services, Illumina 0 0 1 87 116 0 204
Genome-Nilou Lab 0 0 0 0 192 0 192
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 26 33 46 0 105
Fulgent Genetics, Fulgent Genetics 1 2 49 21 7 0 80
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 1 25 2 0 0 30
GenomeConnect, ClinGen 0 0 0 0 0 25 25
OMIM 20 0 0 0 0 0 20
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 3 14 0 0 0 18
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 1 14 1 0 0 17
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 17 17
Mendelics 5 6 3 1 2 0 17
MGZ Medical Genetics Center 0 3 12 1 0 0 16
Baylor Genetics 3 4 8 0 0 0 14
Revvity Omics, Revvity 0 3 11 0 0 0 14
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 1 5 5 0 0 11
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 11 0 0 0 11
3billion 2 2 6 0 0 0 10
Institute of Human Genetics, University of Leipzig Medical Center 1 3 5 0 0 0 9
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 2 6 0 0 0 8
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 0 7 0 0 0 7
Molecular Genetics, Royal Melbourne Hospital 1 0 5 0 1 0 7
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 6 0 0 0 6
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 4 1 0 0 6
Juno Genomics, Hangzhou Juno Genomics, Inc 3 1 2 0 0 0 6
MVZ Medizinische Genetik Mainz 1 1 4 0 0 0 6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 6 0 0 0 0 0 6
Institute of Human Genetics, Cologne University 1 2 2 0 0 0 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 1 3 0 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 0 1 4 0 0 0 5
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 1 3 0 0 0 4
Genetics and Molecular Pathology, SA Pathology 1 0 3 0 0 0 4
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 3 0 0 0 0 4
New York Genome Center 0 0 4 0 0 0 4
Clinical Genetics Laboratory, Region Ostergotland 0 3 0 0 0 0 3
GeneReviews 0 0 0 0 0 3 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 3 0 0 0 0 0 3
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 1 0 1 0 0 0 2
Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada 1 1 0 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 2 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 2 0 0 0 0 0 2
Division of Biology and Genetics, University of Brescia 2 0 0 0 0 0 2
Human Genetics Bochum, Ruhr University Bochum 1 1 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 2 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 0 2 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 2 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 1 0 0 0 0 2
MVZ Martinsried, Medicover Genetics 0 0 2 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 1 0 2
Undiagnosed Diseases Network, NIH 0 2 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 1 0 0 0 1
Blueprint Genetics 0 0 1 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 1 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 1 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 0 1
ConGen 0 1 0 0 0 0 1
Department Of Medical Genetics, University Of British Columbia 0 0 1 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 0 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 0 0 0 0 1 0 1
Département de Génétique, Hôpital Bichat, Assistance Publique Hôpitaux de Paris 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Gansu Provincial Maternity and Child Care Hospital 1 0 0 0 0 0 1
Gemeinschaftspraxis fuer Humangenetik Dresden 0 0 1 0 0 0 1
Imagene.me medical diagnostic laboratory, IMAGENE.ME SA 1 0 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 1 0 0 0 0 1
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf 0 1 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 0 1 0 0 0 1
KardioGenetik, Herz- und Diabeteszentrum NRW 0 0 1 0 0 0 1
MVZ Dr. Eberhard & Partner Dortmund 0 1 0 0 0 0 1
MedGen Diagnostic Laboratory, MedGen Medical Centre 1 0 0 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 1
SYNLAB MVZ HG Mannheim GmbH, Zentrum für Humangenetik Mannheim 0 0 1 0 0 0 1
The Genetics Institute, Rambam Health Care Campus 0 1 0 0 0 0 1
Variantyx, Inc. 1 0 0 0 0 0 1

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