ClinVar Miner

Variants studied for Griscelli syndrome type 1

Included ClinVar conditions (1):
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
5 2 15 3 10 1 36

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MYO5A 5 2 15 3 10 1 36

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Genome-Nilou Lab 0 0 0 0 8 0 8
OMIM 4 0 0 0 1 0 5
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 4 0 0 0 4
Fulgent Genetics, Fulgent Genetics 0 0 2 0 1 0 3
Baylor Genetics 1 0 1 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 0 2 0 0 2
Institute of Immunology and Genetics Kaiserslautern 0 0 2 0 0 0 2
Revvity Omics, Revvity 0 0 2 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 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
Dubai Health Genomic Medicine Center, Dubai Health 0 0 0 1 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 1 0 0 0 1
Mendelics 0 0 0 0 1 0 1

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