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 |
190
|
28
|
791
|
561
|
61
|
1
|
1599
|
Gene and significance breakdown #
Total genes and gene combinations: 4
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
NF2
|
187
|
28
|
783
|
561
|
57
|
1
|
1584
|
LOC130067184, NF2
|
0 |
0 |
8
|
0 |
4
|
0 |
12
|
LOC130067183, LOC130067184, NF2
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
AP1B1, ASCC2, C22orf31, CABP7, CCDC117, CHEK2, EMID1, EWSR1, GAS2L1, HSCB, KREMEN1, MTMR3, NEFH, NF2, NIPSNAP1, RASL10A, RFPL1, RFPL1S, RHBDD3, THOC5, UQCR10, XBP1, ZMAT5, ZNRF3
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
154
|
16
|
649
|
533
|
26
|
0 |
1378
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
129
|
19
|
32
|
0 |
180
|
Genome-Nilou Lab
|
9
|
1
|
79
|
19
|
14
|
0 |
122
|
Mendelics
|
12
|
1
|
16
|
4
|
5
|
0 |
38
|
OMIM
|
14
|
0 |
0 |
0 |
0 |
0 |
14
|
Color Diagnostics, LLC DBA Color Health
|
0 |
0 |
2
|
7
|
4
|
0 |
13
|
Center for Human Genetics, Inc, Center for Human Genetics, Inc
|
6
|
6
|
0 |
0 |
0 |
0 |
12
|
Genetics and Molecular Pathology, SA Pathology
|
9
|
0 |
3
|
0 |
0 |
0 |
12
|
KCCC/NGS Laboratory, Kuwait Cancer Control Center
|
0 |
0 |
0 |
3
|
5
|
0 |
8
|
Baylor Genetics
|
2
|
1
|
4
|
0 |
0 |
0 |
7
|
Revvity Omics, Revvity Omics
|
1
|
0 |
6
|
0 |
0 |
0 |
7
|
St. Jude Molecular Pathology, St. Jude Children's Research Hospital
|
1
|
0 |
3
|
0 |
0 |
0 |
4
|
MGZ Medical Genetics Center
|
1
|
0 |
2
|
0 |
0 |
0 |
3
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
New York Genome Center
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Department of Pediatrics, Memorial Sloan Kettering Cancer Center
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Swedish Neurofibromatosis Center, Swedish Medical Center
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Medical Genomics Laboratory, Department of Genetics UAB
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Center of Genomic medicine, Geneva, University Hospital of Geneva
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
3billion
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Cell and Gene Engineering Laboratory, Zhejiang University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Molecular Genetics, Royal Melbourne Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Provincial Medical Genetics Program of British Columbia, University of British Columbia
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
The information on this website is not intended for direct
diagnostic use or medical decision-making without review by a
genetics professional. Individuals should not change their
health behavior solely on the basis of information contained on
this website. Neither the University of Utah nor the National
Institutes of Health independently verfies the submitted
information. If you have questions about the information
contained on this website, please see a health care
professional.