ClinVar Miner

Variants studied for autosomal recessive osteopetrosis

Included ClinVar conditions (11):
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
62 48 451 101 94 1 735

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
TCIRG1 18 40 180 15 15 1 253
FERMT3 11 1 86 62 17 0 173
OSTM1 5 0 55 9 28 0 97
TNFRSF11A 5 0 63 8 14 0 90
TNFSF11 3 0 40 5 14 0 62
CA2 5 4 18 2 4 0 31
CLCN7 10 2 3 0 1 0 16
CA2, CA3 1 0 6 0 1 0 8
SNX10 2 1 0 0 0 0 3
​intergenic 1 0 0 0 0 0 1
PLEKHM1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 1 1 254 31 69 0 356
Invitae 3 1 83 61 17 0 165
Natera, Inc. 3 0 86 8 10 0 107
Counsyl 8 32 27 1 0 0 68
OMIM 38 0 0 0 0 0 38
Baylor Genetics 3 0 6 0 0 0 9
Fulgent Genetics,Fulgent Genetics 2 2 3 0 0 0 7
Hereditary Research Laboratory, Bethlehem University 4 0 1 0 0 0 5
GeneReviews 3 0 0 0 1 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 2 0 0 0 4
Hadassah Hebrew University Medical Center 0 4 0 0 0 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 4 0 0 0 4
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 2 1 0 0 0 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 3 0 0 0 0 3
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 3 0 0 3
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 2 0 0 2
Mendelics 1 0 0 0 1 0 2
Institute of Human Genetics, Klinikum rechts der Isar 1 1 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 2 0 0 0 2
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 2 0 0 0 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 1 0 0 0 2
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 1 1 0 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 1 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 0 0 0 0 0 1
Undiagnosed Diseases Network,NIH 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 0 1
Myriad Women's Health, Inc. 1 0 0 0 0 0 1
NYU Undiagnosed Diseases Program,NYU School of Medicine 1 0 0 0 0 0 1

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