ClinVar Miner

Variants studied for megalencephaly-severe kyphoscoliosis-overgrowth 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 total
7 4 42 9 11 72

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
HERC1 7 3 42 9 11 71
ERC1 0 1 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
Baylor Genetics 0 0 17 0 0 17
Genome-Nilou Lab 0 0 0 0 11 11
Revvity Omics, Revvity 0 1 8 0 0 9
OMIM 5 0 0 0 0 5
Fulgent Genetics, Fulgent Genetics 0 0 0 5 0 5
New York Genome Center 0 0 5 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 4 0 0 4
3billion, Medical Genetics 0 0 0 4 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 0 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 2 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 2 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 1 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 1
Charité Universitätsmedizin Berlin, Charite Universitaetsmedizin Berlin 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 1
Molecular Biology Laboratory, Department of Zoology, Quaid-i-azam University 0 0 1 0 0 1

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