ClinVar Miner

Variants studied for Griscelli syndrome type 2

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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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 total
49 20 123 88 26 294

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
RAB27A 48 20 122 88 26 292
CCPG1, DNAAF4, PIERCE2, PIGB, RAB27A 0 0 1 0 0 1
PIGB, RAB27A 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 35 13 69 79 4 200
Illumina Laboratory Services, Illumina 0 0 57 10 23 90
OMIM 15 0 0 0 0 15
Neuberg Centre For Genomic Medicine, NCGM 2 1 3 0 0 6
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 4 1 0 0 0 5
Revvity Omics, Revvity 0 0 4 0 0 4
Fulgent Genetics, Fulgent Genetics 2 0 2 0 0 4
Genetic Services Laboratory, University of Chicago 2 0 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 2
Genomics Facility, Ludwig-Maximilians-Universität München 2 0 0 0 0 2
Baylor Genetics 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1
3billion, Medical Genetics 0 0 1 0 0 1
Regional Center For Medical Genetics Timis, Louis Turcanu Emergency Hospital for Children Timisoara 1 0 0 0 0 1

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