ClinVar Miner

Variants studied for Griscelli syndrome

Included ClinVar conditions (4):
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
62 30 146 98 39 1 362

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
RAB27A 50 24 126 94 26 0 307
MYO5A 6 2 15 3 10 1 37
MLPH 5 4 4 1 2 0 15
CCPG1, DNAAF4, PIERCE2, PIGB, RAB27A 0 0 1 0 0 0 1
MIR6811, MLPH 0 0 0 0 1 0 1
PIGB, RAB27A 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 35
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 37 13 70 85 4 0 209
Illumina Laboratory Services, Illumina 0 0 57 10 23 0 90
OMIM 23 0 0 0 1 0 24
Genome-Nilou Lab 0 0 0 0 12 0 12
Revvity Omics, Revvity 3 1 7 0 0 0 11
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 5 3 2 0 0 0 10
Department of Pathology and Laboratory Medicine, Sinai Health System 0 2 6 1 0 0 9
Fulgent Genetics, Fulgent Genetics 2 0 4 1 1 0 8
Neuberg Centre For Genomic Medicine, NCGM 2 1 4 0 0 0 7
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 2 0 0 4
Department of Pediatrics, Hirosaki University Graduate School of Medicine 0 3 1 0 0 0 4
Baylor Genetics 1 1 1 0 0 0 3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 2 0 1 0 0 0 3
3billion 0 0 2 0 0 0 2
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 2 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 2 0 0 0 0 0 2
Genomics Facility, Ludwig-Maximilians-Universität München 2 0 0 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 0 0 2 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 1 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 0 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Division of Clinical Immunology and Allergy, Necmettin Erbakan University, Faculty of Medicine 0 0 1 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 0 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 0 0 0 1 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Institute of Human Genetics, University of Ulm 1 0 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
Mendelics 0 0 0 0 1 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 1
Regional Center For Medical Genetics Timis, Louis Turcanu Emergency Hospital for Children Timisoara 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 0 0 0 0 1

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