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:

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
13 22 107 5 14 7 162

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 13 22 107 5 14 7 162

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Revvity Omics, Revvity 1 6 75 3 0 0 85
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
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 6 6
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 5 0 0 0 6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 5 1 0 0 0 0 6
OMIM 5 0 0 0 0 0 5
Department of Pathology and Laboratory Medicine, Sinai Health System 0 2 2 0 0 0 4
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 3 0 0 0 4
3billion 1 2 0 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
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
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 1 0 0 0 2
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 2 0 0 0 0 2
Institute for Genomic Medicine, Nationwide Children's Hospital 0 2 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 1 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 1 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 2 0 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Dasa 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Institute of Human Genetics Munich, TUM University Hospital 1 0 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 1 0 0 0 0 1
Variantyx, Inc. 1 0 0 0 0 0 1

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