ClinVar Miner

Variants studied for chronic recurrent multifocal osteomyelitis

Included ClinVar conditions (4):
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 association not provided total
36 18 469 375 81 2 11 935

Gene and significance breakdown #

Total genes and gene combinations: 9
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
LPIN2 23 16 379 310 57 0 11 746
IL1RN 9 2 87 65 24 0 0 180
LOC130062090, LOC130062091, LOC130062092, LPIN2 1 0 1 0 0 0 0 2
MLKL 0 0 0 0 0 2 0 2
EMILIN2, LPIN2, SMCHD1 1 0 0 0 0 0 0 1
IL1F10, IL1RN, IL36RN 1 0 0 0 0 0 0 1
IL1R1 1 0 0 0 0 0 0 1
LPIN2, MYL12A, MYL12B, MYOM1, TGIF1 0 0 1 0 0 0 0 1
NFKBIA 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
Invitae 28 13 296 339 41 0 0 717
Illumina Laboratory Services, Illumina 0 0 166 27 51 0 0 244
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 18 30 10 0 0 58
Revvity Omics, Revvity 0 0 27 0 0 0 0 27
Fulgent Genetics, Fulgent Genetics 0 1 7 2 0 0 0 10
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 9 0 0 0 0 9
OMIM 7 0 0 0 0 0 0 7
Unité médicale des maladies autoinflammatoires, CHRU Montpellier 0 0 0 0 0 0 7 7
GeneReviews 0 0 0 0 0 0 6 6
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 1 3 0 0 0 4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 2 1 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 0 2 2
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 2 0 0 0 0 2
Vinuesa Lab, Australian National University 0 0 0 0 0 2 0 2
Genome-Nilou Lab 0 0 1 0 1 0 0 2
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 2 0 0 0 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 2 0 0 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 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 0 1
Cytogenetics and Molecular Genetics Section, Pathology Unit, BARC Hospital, Bhabha Atomic Research Centre 1 0 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 0 1 0 0 0 1
Genomics Facility, Ludwig-Maximilians-Universität München 0 1 0 0 0 0 0 1
Experimental and Health Sciences Department, Universitat Pompeu Fabra 0 0 1 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 0 1

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