ClinVar Miner

Variants studied for Osteopathia striata with cranial sclerosis

Coded as:
Minimum submission review status: Collection method:
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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 not provided total
19 6 23 5 0 1 53

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign not provided total
AMER1 15 6 23 5 1 49
AMER1, ARHGEF9, ARHGEF9-IT1, ASB12, LAS1L, LINC01278, LOC113875034, LOC121627974, LOC121853058, LOC128031833, LOC130068356, LOC130068357, LOC130068358, LOC130068359, LOC130068360, LOC130068361, LOC130068362, LOC130068363, LOC130068364, LOC130068365, LOC130068366, LOC130068367, LOC130068368, LOC130068369, LOC130068370, LOC130068371, LOC130068372, LOC130068373, LOC130068374, MIR1468, MTMR8, NLRP2B, SPIN4, ZC3H12B, ZC4H2, ZXDA, ZXDB 1 0 0 0 0 1
AMER1, ARHGEF9, ASB12, MTMR8 1 0 0 0 0 1
AMER1, LOC130068366, LOC130068367 1 0 0 0 0 1
AMER1, LOC130068367, LOC130068368 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign not provided total
Revvity Omics, Revvity 2 0 8 0 0 10
OMIM 8 0 0 0 0 8
Fulgent Genetics, Fulgent Genetics 0 0 3 3 0 6
Women's and Children's Health, University of Otago 6 0 0 0 0 6
Baylor Genetics 0 1 4 0 0 5
Mendelics 0 1 1 1 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 0 0 2 0 2
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 2 0 0 2
3billion, Medical Genetics 1 1 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 1
Illumina Laboratory Services, Illumina 1 0 0 0 0 1
Center for Molecular Medicine, Karolinska Institute 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 1
DASA 1 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 1 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 1
MVZ Medizinische Genetik Mainz 0 1 0 0 0 1

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