ClinVar Miner

Variants studied for osteochondrosis

Included ClinVar conditions (9):
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
33 149 129 25 15 3 323

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
DPYD 23 143 112 14 12 2 275
COL2A1 9 3 12 11 3 1 39
DPYD, LOC129930998 0 2 5 0 0 0 7
​intergenic 1 0 0 0 0 0 1
GNPTAB 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Baylor Genetics 15 90 4 0 0 0 109
Illumina Laboratory Services, Illumina 1 0 83 6 8 0 98
Counsyl 1 53 20 5 0 0 79
Genome-Nilou Lab 1 17 27 6 4 0 55
Fulgent Genetics, Fulgent Genetics 8 5 16 11 4 0 44
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 8 23 0 0 0 0 31
Juno Genomics, Hangzhou Juno Genomics, Inc 3 3 4 0 0 0 10
Revvity Omics, Revvity 2 3 3 0 0 0 8
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 0 3 0 0 0 8
OMIM 6 0 0 0 0 0 6
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 2 0 2
Centogene AG - the Rare Disease Company 2 0 0 0 0 0 2
Mendelics 0 0 0 1 1 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 2 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 1 1 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 0 2
Department of Genetics, Suzhou Beikang Medical Laboratory 0 2 0 0 0 0 2
Elsea Laboratory, Baylor College of Medicine 0 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 0 0 0 0 1
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 1 0 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Biochemical Genetics Department, Cyprus Institute of Neurology and Genetics 0 1 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 1 0 0 0 0 1
New York Genome Center 0 1 0 0 0 0 1
3billion 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
DASA 0 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1

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