ClinVar Miner

Variants in gene TCIRG1

See also:
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
32 46 122 93 26 1 275

Condition and significance breakdown #

Total conditions: 7
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Autosomal recessive osteopetrosis 1 16 36 105 9 9 1 169
not provided 21 12 27 86 21 0 152
not specified 0 0 0 0 9 0 9
Osteopetrosis 1 1 2 1 0 0 5
Hypertelorism; Pectus excavatum; Global developmental delay; Abnormal facial shape; Congenital strabismus; Hepatosplenomegaly; Relative macrocephaly; Thrombocytopenia 0 2 0 0 0 0 2
Congenital neutropenia 1 0 0 0 0 0 1
Neutropenia, severe congenital 1, autosomal dominant 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 26
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 18 10 0 85 18 0 131
Illumina Clinical Services Laboratory,Illumina 1 0 77 8 9 0 95
Counsyl 8 32 27 1 0 0 68
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 2 0 23 0 8 0 33
CeGaT Praxis fuer Humangenetik Tuebingen 2 1 4 2 0 0 9
OMIM 7 0 1 0 0 0 8
Fulgent Genetics,Fulgent Genetics 2 2 2 0 0 0 6
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 1 4 0 6
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 1 0 0 0 3 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 2 0 0 0 3
Baylor Genetics 1 0 1 0 0 0 2
Integrated Genetics/Laboratory Corporation of America 1 1 0 0 0 0 2
Hadassah Hebrew University Medical Center 0 2 0 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 2 0 0 0 0 2
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 2 0 0 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 0 0 0 0 1
GeneDx 0 1 0 0 0 0 1
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 0 0 1
University of Washington School of Medicine 1 0 0 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 0 1
Myriad Women's Health, Inc. 1 0 0 0 0 0 1
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 0 1 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.