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 |
147
|
153
|
722
|
1007
|
158
|
3
|
2049
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
138
|
65
|
447
|
930
|
47
|
0 |
1627
|
Natera, Inc.
|
1
|
9
|
285
|
77
|
29
|
0 |
401
|
Ambry Genetics
|
11
|
0 |
189
|
57
|
0 |
0 |
257
|
GeneDx
|
1
|
1
|
34
|
67
|
130
|
0 |
233
|
Illumina Laboratory Services, Illumina
|
1
|
0 |
117
|
13
|
24
|
0 |
155
|
Fulgent Genetics, Fulgent Genetics
|
3
|
12
|
95
|
35
|
1
|
0 |
146
|
Counsyl
|
0 |
42
|
24
|
6
|
0 |
0 |
72
|
Myriad Genetics, Inc.
|
1
|
47
|
0 |
0 |
0 |
0 |
48
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
5
|
8
|
12
|
5
|
9
|
0 |
39
|
Genome-Nilou Lab
|
0 |
1
|
8
|
3
|
25
|
0 |
37
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
13
|
6
|
13
|
0 |
32
|
PreventionGenetics, part of Exact Sciences
|
0 |
2
|
0 |
12
|
18
|
0 |
32
|
St. Jude Molecular Pathology, St. Jude Children's Research Hospital
|
2
|
2
|
26
|
0 |
0 |
0 |
30
|
CeGaT Center for Human Genetics Tuebingen
|
0 |
0 |
7
|
14
|
0 |
0 |
21
|
Eurofins Ntd Llc (ga)
|
1
|
0 |
11
|
1
|
2
|
0 |
15
|
Clinical Genetics, Academic Medical Center
|
2
|
0 |
2
|
4
|
6
|
0 |
14
|
Mayo Clinic Laboratories, Mayo Clinic
|
1
|
2
|
10
|
0 |
0 |
0 |
13
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
2
|
5
|
4
|
0 |
11
|
OMIM
|
5
|
0 |
0 |
0 |
0 |
0 |
5
|
Baylor Genetics
|
1
|
1
|
2
|
0 |
0 |
0 |
4
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
2
|
0 |
0 |
0 |
1
|
0 |
3
|
Inherited Neuropathy Consortium
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Revvity Omics, Revvity
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Mendelics
|
0 |
0 |
0 |
0 |
2
|
0 |
2
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
MGZ Medical Genetics Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
SNPedia
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
GeneID Lab - Advanced Molecular Diagnostics
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genomic Medicine Lab, University of California San Francisco
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Reproductive Health Research and Development, BGI Genomics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
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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
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