ClinVar Miner

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

Included ClinVar conditions (7):
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
561 217 2139 3100 782 19 6694

Gene and significance breakdown #

Total genes and gene combinations: 11
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
COL5A1 183 67 702 1236 458 14 2570
COL1A2 306 115 645 681 60 0 1807
COL5A2 16 18 617 907 139 3 1696
COL5A1, LOC101448202 51 16 172 276 125 1 611
COL3A1, COL5A2 2 1 0 0 0 0 3
COL1A1 0 0 2 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
CASD1, COL1A2, SGCE 1 0 0 0 0 0 1
COL5A1, LOC130002964 1 0 0 0 0 0 1
DNAJB6 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 56
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 534 186 2048 3086 699 0 6553
Genome-Nilou Lab 0 0 0 0 184 0 184
Fulgent Genetics, Fulgent Genetics 1 1 23 18 7 0 50
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
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 12 12
OMIM 12 0 0 0 0 0 12
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 11 0 0 0 12
Baylor Genetics 1 2 6 0 0 0 9
3billion 1 1 6 0 0 0 8
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 0 7 0 0 0 7
GenomeConnect, ClinGen 0 0 0 0 0 6 6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 6 0 0 0 0 0 6
Juno Genomics, Hangzhou Juno Genomics, Inc 3 0 2 0 0 0 5
MVZ Medizinische Genetik Mainz 1 1 3 0 0 0 5
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 4 0 0 0 5
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 1 3 0 0 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 2 1 0 0 4
Institute of Human Genetics, Cologne University 1 1 2 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 0 3 1 0 0 0 4
Mendelics 2 1 1 0 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 0 1 3 0 0 0 4
Clinical Genetics Laboratory, Region Ostergotland 0 3 0 0 0 0 3
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 1 0 1 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
Genetics and Molecular Pathology, SA Pathology 1 0 1 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 0 0 0 0 0 2
Human Genetics Bochum, Ruhr University Bochum 1 1 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 0 2 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 1 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 1 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 2 0 0 0 0 2
New York Genome Center 0 0 2 0 0 0 2
Breakthrough Genomics, Breakthrough Genomics 1 0 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 1 1
Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada 0 1 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 1 0 0 0 0 1
ConGen 0 1 0 0 0 0 1
Division of Biology and Genetics, University of Brescia 1 0 0 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
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Illumina Laboratory Services, Illumina 0 0 1 0 0 0 1
Imagene.me medical diagnostic laboratory, IMAGENE.ME SA 1 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
KardioGenetik, Herz- und Diabeteszentrum NRW 0 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 0 1
MVZ Dr. Eberhard & Partner Dortmund 0 1 0 0 0 0 1
MVZ Martinsried, Medicover Genetics 0 0 1 0 0 0 1
MedGen Diagnostic Laboratory, MedGen Medical Centre 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 1
SYNLAB MVZ HG Mannheim GmbH, Zentrum für Humangenetik Mannheim 0 0 1 0 0 0 1
Variantyx, Inc. 1 0 0 0 0 0 1

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