ClinVar Miner

Variants in gene TCIRG1

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Minimum submission review status: Collection method:
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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
44 52 204 188 27 1 441

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 34 18 41 179 21 0 277
Autosomal recessive osteopetrosis 1 18 40 180 15 15 1 253
not specified 0 0 0 0 9 0 9
Osteopetrosis 2 2 2 1 0 0 7
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: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 31 16 14 178 18 0 257
Natera, Inc. 3 0 86 8 10 0 107
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
Baylor Genetics 2 0 2 0 0 0 4
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 3 0 4
Integrated Genetics/Laboratory Corporation of America 2 2 0 0 0 0 4
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 4 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 2 0 0 0 3
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 2 1 0 0 0 3
Hadassah Hebrew University Medical Center 0 2 0 0 0 0 2
Hereditary Research Laboratory, Bethlehem University 1 0 1 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
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 1 1 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
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
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

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