ClinVar Miner

Variants studied for Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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
12 17 56 4 14 2 102

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
MYO18B 12 17 56 4 14 2 102

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Revvity Omics, Revvity 1 6 30 2 0 0 39
Genome-Nilou Lab 0 0 0 0 14 0 14
Baylor Genetics 0 2 7 0 0 0 9
Fulgent Genetics, Fulgent Genetics 0 0 6 2 0 0 8
OMIM 5 0 0 0 0 0 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 1 0 0 0 0 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 3 0 0 0 4
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 3 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 2 0 0 0 3
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 2 0 0 0 3
Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 2 1 0 0 0 0 3
Institute for Genomic Medicine, Nationwide Children's Hospital 0 2 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 1 0 0 0 2
3billion, Medical Genetics 0 2 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
DASA 0 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 0 1

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