ClinVar Miner

Variants studied for Ehlers-Danlos syndrome, classic type, 1

Included ClinVar conditions (6):
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
417 177 1562 2255 709 12 5028

Gene and significance breakdown #

Total genes and gene combinations: 9
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
COL5A1 134 49 514 904 403 9 1936
COL1A2 224 99 478 504 58 0 1363
COL5A2 14 14 443 632 131 3 1233
COL5A1, LOC101448202 42 14 124 215 117 0 489
COL1A1 0 0 2 0 0 0 2
COL3A1, COL5A2 1 1 0 0 0 0 2
AEBP1 1 0 0 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
COL5A1, LOC130002964 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 37
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 403 156 1499 2242 626 0 4926
Genome-Nilou Lab 0 0 0 0 184 0 184
Fulgent Genetics, Fulgent Genetics 1 1 14 18 7 0 41
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 1 14 0 0 0 16
MGZ Medical Genetics Center 0 3 10 1 0 0 14
OMIM 12 0 0 0 0 0 12
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 10 10
Baylor Genetics 1 2 6 0 0 0 9
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 6 0 0 0 7
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 0 7 0 0 0 7
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 4 0 0 0 5
Centogene AG - the Rare Disease Company 0 1 3 0 0 0 4
Mendelics 2 1 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 3 0 0 0 0 3
Institute of Human Genetics, Cologne University 0 1 1 0 0 0 2
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 1 0 1 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 1 0 1 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 0 2 0 0 0 2
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 2 0 0 0 2
Human Genetics Bochum, Ruhr University Bochum 1 1 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 1 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
MVZ Dr. Eberhard & Partner Dortmund 0 1 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 1 1
Illumina Laboratory Services, Illumina 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Clinical Genetics Laboratory, Region Ostergotland 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 0 1 0 1
New York Genome Center 0 0 1 0 0 0 1
Division of Biology and Genetics, University of Brescia 1 0 0 0 0 0 1
ConGen 0 1 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 0 0 0 0 1
3billion 1 0 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 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.