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 |
12
|
18
|
61
|
10
|
8
|
22
|
124
|
Gene and significance breakdown #
Total genes and gene combinations: 21
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Illumina Laboratory Services, Illumina
|
0 |
1
|
43
|
4
|
0 |
0 |
48
|
GeneReviews
|
2
|
0 |
0 |
0 |
0 |
22
|
24
|
Fulgent Genetics, Fulgent Genetics
|
2
|
3
|
9
|
3
|
0 |
0 |
17
|
Counsyl
|
0 |
1
|
8
|
4
|
2
|
0 |
15
|
Genome-Nilou Lab
|
0 |
1
|
3
|
0 |
4
|
0 |
8
|
Revvity Omics, Revvity
|
2
|
3
|
0 |
0 |
0 |
0 |
5
|
Johns Hopkins Genomics, Johns Hopkins University
|
1
|
0 |
4
|
0 |
0 |
0 |
5
|
OMIM
|
4
|
0 |
0 |
0 |
0 |
0 |
4
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
1
|
0 |
1
|
2
|
0 |
4
|
Laboratory of Cell Biology, Institute of Biomedical Sciences Abel Salazar (ICBAS)
|
1
|
3
|
0 |
0 |
0 |
0 |
4
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Research Unit of Respiratory Disease, The Second Xiangya Hospital of Central South University
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Genomics England Pilot Project, Genomics England
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Department of Medical Genetics, Tarbiat Modares University
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Baylor Genetics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
1
|
0 |
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.