ClinVar Miner

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

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
229 88 1255 2110 687 9 4299

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
COL5A1 165 58 585 1088 434 6 2278
COL5A2 14 16 527 781 134 3 1471
COL5A1, LOC101448202 46 13 141 241 119 0 543
COL3A1, COL5A2 2 1 0 0 0 0 3
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
COL1A1 0 0 1 0 0 0 1
COL5A1, LOC130002964 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 43
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 209 66 1201 2108 605 0 4189
Genome-Nilou Lab 0 0 0 0 184 0 184
MGZ Medical Genetics Center 0 3 10 1 0 0 14
OMIM 12 0 0 0 0 0 12
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 9 0 0 0 10
Baylor Genetics 1 2 6 0 0 0 9
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 0 7 0 0 0 7
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 7 7
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 5 0 0 0 6
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 4 0 0 0 5
MVZ Medizinische Genetik Mainz 1 1 3 0 0 0 5
Institute of Human Genetics, Cologne University 1 1 2 0 0 0 4
Centogene AG - the Rare Disease Company 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, University of Leipzig Medical Center 0 3 1 0 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 0 1 3 0 0 0 4
Mendelics 2 1 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 0 0 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
Juno Genomics, Hangzhou Juno Genomics, Inc 2 0 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 1 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 0 2 0 0 0 2
New York Genome Center 0 0 2 0 0 0 2
3billion 1 0 1 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
MVZ Dr. Eberhard & Partner Dortmund 0 1 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 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
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 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
MedGen Diagnostic Laboratory, MedGen Medical Centre 1 0 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical 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
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 1 0 0 0 0 0 1

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