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 |
8
|
20
|
85
|
19
|
10
|
117
|
Gene and significance breakdown #
Total genes and gene combinations: 1
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
PROKR2
|
8
|
20
|
85
|
19
|
10
|
117
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
Fulgent Genetics, Fulgent Genetics
|
2
|
8
|
65
|
5
|
1
|
81
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
13
|
12
|
10
|
35
|
OMIM
|
7
|
0 |
0 |
0 |
0 |
7
|
Revvity Omics, Revvity
|
0 |
3
|
2
|
0 |
0 |
5
|
Genomics England Pilot Project, Genomics England
|
0 |
4
|
0 |
0 |
0 |
4
|
Athena Diagnostics
|
0 |
0 |
0 |
0 |
3
|
3
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
1
|
2
|
0 |
0 |
0 |
3
|
Mendelics
|
1
|
0 |
1
|
1
|
0 |
3
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
2
|
0 |
1
|
0 |
3
|
Genetics Department, Polish Mother's Memorial Hospital Research Institute
|
0 |
0 |
3
|
0 |
0 |
3
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
0 |
0 |
2
|
0 |
0 |
2
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
0 |
0 |
2
|
0 |
0 |
2
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
0 |
2
|
0 |
0 |
0 |
2
|
New York Genome Center
|
0 |
1
|
1
|
0 |
0 |
2
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
2
|
2
|
MGZ Medical Genetics Center
|
0 |
1
|
0 |
0 |
0 |
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
1
|
0 |
0 |
1
|
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital
|
0 |
1
|
0 |
0 |
0 |
1
|
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
|
0 |
1
|
0 |
0 |
0 |
1
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
1
|
0 |
0 |
1
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
0 |
1
|
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
1
|
0 |
0 |
0 |
1
|
Yale Center for Mendelian Genomics, Yale University
|
0 |
1
|
0 |
0 |
0 |
1
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
0 |
1
|
0 |
0 |
0 |
1
|
Genomic Medicine Lab, University of California San Francisco
|
0 |
1
|
0 |
0 |
0 |
1
|
Breda Genetics srl
|
0 |
0 |
1
|
0 |
0 |
1
|
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital
|
0 |
0 |
0 |
1
|
0 |
1
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
0 |
0 |
1
|
0 |
0 |
1
|
Department of Medical Genomics, Royal Prince Alfred Hospital
|
0 |
1
|
0 |
0 |
0 |
1
|
3billion, Medical Genetics
|
0 |
1
|
0 |
0 |
0 |
1
|
DASA
|
0 |
1
|
0 |
0 |
0 |
1
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
0 |
1
|
0 |
0 |
1
|
MVZ Medizinische Genetik Mainz
|
0 |
0 |
1
|
0 |
0 |
1
|
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