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
56 35 84 11 12 1 191

Gene and significance breakdown #

Total genes and gene combinations: 10
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TCIRG1 15 33 36 2 0 1 81
FERMT3 11 0 28 7 9 0 53
CA2 6 1 10 2 1 0 20
CLCN7 8 1 3 0 1 0 13
CA2, CA3 1 0 5 0 1 0 7
TNFRSF11A 5 0 1 0 0 0 6
OSTM1 4 0 1 0 0 0 5
TNFSF11 3 0 0 0 0 0 3
SNX10 2 0 0 0 0 0 2
PLEKHM1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Counsyl 8 32 27 1 0 0 68
Invitae 3 0 24 6 9 0 42
OMIM 38 0 0 0 0 0 38
Illumina Clinical Services Laboratory,Illumina 1 1 20 2 2 0 26
Fulgent Genetics,Fulgent Genetics 2 2 3 0 0 0 7
GeneReviews 3 0 0 0 1 0 4
Genomic Research Center,Shahid Beheshti University of Medical Sciences 2 0 2 0 0 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 4 0 0 0 4
Baylor Miraca Genetics Laboratories, 2 0 1 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
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 0 0 2 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
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 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
Molecular Diagnostics Laboratory,M Health: University of Minnesota 1 0 0 0 0 0 1

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