ClinVar Miner

Variants in gene TREM2

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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 risk factor not provided total
18 16 87 79 14 2 5 182

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
not provided 8 5 68 70 12 0 0 151
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 9 5 24 4 2 0 0 39
TREM2-related disorder 1 0 6 12 1 0 0 20
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 2 5 1 5 1 0 5 16
Inborn genetic diseases 1 0 9 3 0 0 0 13
not specified 0 0 2 2 5 0 0 9
ALZHEIMER DISEASE 17, SUSCEPTIBILITY TO 0 0 0 0 0 2 0 2
Frontotemporal dementia 1 1 0 0 0 0 0 2
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 6 3 58 58 10 0 0 135
Illumina Laboratory Services, Illumina 0 0 16 5 2 0 0 23
PreventionGenetics, part of Exact Sciences 1 0 6 12 3 0 0 22
CeGaT Center for Human Genetics Tuebingen 2 1 5 7 2 0 0 17
Eurofins Ntd Llc (ga) 0 0 9 2 4 0 0 15
GeneDx 0 0 0 7 6 0 0 13
Ambry Genetics 1 0 9 3 0 0 0 13
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 7 3 0 0 10
OMIM 7 0 0 0 0 2 0 9
Fulgent Genetics, Fulgent Genetics 0 0 7 2 0 0 0 9
SIB Swiss Institute of Bioinformatics 2 3 2 0 0 0 0 7
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 6 0 0 0 7
Breakthrough Genomics, Breakthrough Genomics 0 0 0 7 0 0 0 7
GeneReviews 1 0 0 0 0 0 5 6
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 5 0 0 0 0 0 5
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 4 1 0 0 5
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 3 1 0 0 5
Mayo Clinic Laboratories, Mayo Clinic 0 1 2 0 0 0 0 3
Revvity Omics, Revvity 0 0 2 0 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 2 0 0 0 0 2
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 0 0 1
Kosik Lab, Neuroscience Research Institute, University of California Santa Barbara 1 0 0 0 0 0 0 1
Guerreiro-Bras Laboratory, Van Andel Institute 0 1 0 0 0 0 0 1
Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences 1 0 0 0 0 0 0 1
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town 1 0 0 0 0 0 0 1

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