ClinVar Miner

Variants studied for Chédiak-Higashi syndrome

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
166 137 1581 1734 96 47 3611

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
LYST 158 131 1549 1695 94 46 3529
LOC126806063, LYST 6 5 25 38 1 1 70
LOC129932856, LYST 0 0 5 1 1 0 7
SMCHD1 0 1 1 0 0 0 2
ACTN2, ARID4B, B3GALNT2, EDARADD, ERO1B, GGPS1, GNG4, GPR137B, HEATR1, LGALS8, LYST, NID1, RBM34, TBCE, TOMM20 1 0 0 0 0 0 1
B3GALNT2, GNG4, LYST 0 0 1 0 0 0 1
B3GALNT2, GNG4, LYST, TBCE 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 40
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 156 28 1409 1713 87 0 3393
Illumina Laboratory Services, Illumina 0 1 178 13 23 0 215
Revvity Omics, Revvity 9 3 132 0 0 0 144
Fulgent Genetics, Fulgent Genetics 3 30 50 7 0 0 90
Baylor Genetics 7 65 9 0 0 0 81
GeneReviews 0 0 0 0 0 41 41
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 17 4 0 0 21
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 13 0 0 0 13
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 0 5 7 0 0 0 12
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 7 1 0 9
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 1 6 1 0 8
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 4 2 0 0 0 6
Dubai Health Genomic Medicine Center, Dubai Health 1 1 1 1 1 0 5
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 5 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 2 0 0 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 0 2 2 0 0 0 4
New York Genome Center 0 0 4 0 0 0 4
Johns Hopkins Genomics, Johns Hopkins University 2 0 0 1 0 0 3
Laboratory of Immunopathology and Genetics, Medical Laboratory of Pediatric Oncology and Hematology, Central Clinical Hospital of the Medical University of Lodz 0 3 0 0 0 0 3
Mendelics 0 0 1 1 1 0 3
3billion 1 0 1 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 2 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 0 0 2
Fan Lab, Zhengzhou University 0 2 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 1 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 0 0 0 0 1
Department of Genetics, Sultan Qaboos University Hospital 1 0 0 0 0 0 1
Department of Genetics, Suzhou Beikang Medical Laboratory 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 0 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Laboratoire de Génome Humain et Maladies Multifactorielles, Monastir Universite 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 0 1
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 1 0 0 0 1
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 0 0 1 0 0 0 1
Variantyx, Inc. 0 1 0 0 0 0 1

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