ClinVar Miner

Variants studied for hyaline fibromatosis 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
17 14 105 16 31 181

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ANTXR2 17 14 103 16 29 177
ANTXR2, LOC129992737 0 0 1 0 1 2
ANTXR2, LOC129992738 0 0 1 0 1 2

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 102 15 29 146
OMIM 8 0 0 0 0 8
Baylor Genetics 3 1 1 0 0 5
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 1 2 0 0 4
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 3 1 0 0 0 4
Genome-Nilou Lab 0 0 0 0 4 4
Revvity Omics, Revvity 1 2 0 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 1 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 2 0 0 0 3
Fulgent Genetics, Fulgent Genetics 0 0 0 1 1 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 1 1 0 0 0 2
Centogene AG - the Rare Disease Company 1 0 0 0 0 1
Mendelics 0 0 0 0 1 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 1
Clinical Genetics Department, Hospital Sant Joan de Deu 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 1 0 0 0 1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 0 1 0 0 0 1
3billion 1 0 0 0 0 1
Center for Comprehensive Genetic Services, Baqiyatallah University of Medical Sciences 0 1 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 1

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