ClinVar Miner

Variants in gene TCIRG1

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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
19 35 102 8 12 1 162

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Osteopetrosis autosomal recessive 1 15 33 36 2 0 1 81
Osteopetrosis 0 0 49 3 2 0 54
not provided 3 2 26 3 4 0 38
not specified 0 0 0 0 9 0 9
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: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Counsyl 8 32 27 1 0 0 68
Illumina Clinical Services Laboratory,Illumina 1 0 53 3 2 0 59
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 2 0 23 0 8 0 33
OMIM 7 0 1 0 0 0 8
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
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 3 2 0 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 Miraca Genetics Laboratories, 1 0 1 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

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