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 |
|
146
|
37
|
934
|
882
|
71
|
32
|
1981
|
Condition and significance breakdown #
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
Labcorp Genetics (formerly Invitae), Labcorp
|
107
|
17
|
562
|
687
|
22
|
0 |
1395
|
|
Ambry Genetics
|
32
|
9
|
517
|
376
|
11
|
0 |
945
|
|
GeneDx
|
15
|
2
|
43
|
24
|
19
|
0 |
103
|
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
76
|
22
|
22
|
0 |
97
|
|
Fulgent Genetics, Fulgent Genetics
|
5
|
3
|
63
|
15
|
1
|
0 |
87
|
|
Baylor Genetics
|
3
|
1
|
38
|
0 |
0 |
0 |
42
|
|
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital
|
1
|
0 |
2
|
17
|
6
|
0 |
26
|
|
Dr. Peter K. Rogan Lab, Western University
|
0 |
0 |
0 |
0 |
0 |
23
|
23
|
|
PreventionGenetics, part of Exact Sciences
|
1
|
1
|
4
|
13
|
3
|
0 |
22
|
|
Breakthrough Genomics, Breakthrough Genomics
|
0 |
0 |
2
|
5
|
13
|
0 |
20
|
|
CeGaT Center for Human Genetics Tuebingen
|
2
|
0 |
0 |
13
|
1
|
0 |
16
|
|
OMIM
|
15
|
0 |
0 |
0 |
0 |
0 |
15
|
|
Sema4, Sema4
|
0 |
0 |
7
|
3
|
2
|
0 |
12
|
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
1
|
1
|
2
|
2
|
6
|
0 |
12
|
|
KCCC/NGS Laboratory, Kuwait Cancer Control Center
|
0 |
0 |
0 |
3
|
5
|
0 |
8
|
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
6
|
6
|
|
Genetic Services Laboratory, University of Chicago
|
2
|
0 |
1
|
1
|
1
|
0 |
5
|
|
Eurofins Ntd Llc (ga)
|
1
|
0 |
2
|
0 |
1
|
0 |
4
|
|
St. Jude Molecular Pathology, St. Jude Children's Research Hospital
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
0 |
2
|
1
|
0 |
3
|
|
ITMI
|
0 |
0 |
0 |
0 |
0 |
3
|
3
|
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
0 |
1
|
1
|
0 |
2
|
|
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
1
|
1
|
0 |
0 |
2
|
|
Clinical Genetics and Genomics, Karolinska University Hospital
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
Department of Oral Pathology, Peking University School and Hospital of Stomatology
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
0 |
1
|
1
|
0 |
0 |
2
|
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
0 |
0 |
1
|
0 |
1
|
0 |
2
|
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
|
MGZ Medical Genetics Center
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
|
Mendelics
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
|
Molecular Pathology, Peter Maccallum Cancer Centre
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
|
Revvity Omics, Revvity
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
3billion
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Biesecker Lab/Clinical Genomics Section, National Institutes of Health
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
CSER _CC_NCGL, University of Washington
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Clinical Genomics Laboratory, Stanford Medicine
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Dasa
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Department of Molecular Diagnostics, Institute of Oncology Ljubljana
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
|
Gharavi Laboratory, Columbia University
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Human Genetics Unit, University Of Colombo
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Labor Lademannbogen MVZ GmbH
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
|
Laboratory of Molecular and Cytogenetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS)
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
|
Molecular Diagnostics Laboratory, Catalan Institute of Oncology
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
MutSpliceDB: a database of splice sites variants effects on splicing, NIH
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Otogenetics
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
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. The submitted information has not been verified.
If you have questions about the information contained on this
website, please see a health care professional.