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 |
97
|
136
|
196
|
330
|
19
|
692
|
Gene and significance breakdown #
Total genes and gene combinations: 4
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
Labcorp Genetics (formerly Invitae), Labcorp
|
85
|
44
|
131
|
327
|
10
|
597
|
Genome-Nilou Lab
|
18
|
17
|
61
|
7
|
13
|
116
|
Natera, Inc.
|
11
|
3
|
59
|
9
|
4
|
86
|
Revvity Omics, Revvity
|
17
|
17
|
50
|
1
|
0 |
85
|
Baylor Genetics
|
28
|
46
|
0 |
0 |
0 |
74
|
Counsyl
|
1
|
30
|
17
|
1
|
0 |
49
|
Fulgent Genetics, Fulgent Genetics
|
11
|
10
|
5
|
0 |
0 |
26
|
Myriad Genetics, Inc.
|
1
|
7
|
1
|
0 |
0 |
9
|
OMIM
|
7
|
0 |
0 |
0 |
0 |
7
|
Neuberg Centre For Genomic Medicine, NCGM
|
2
|
2
|
3
|
0 |
0 |
7
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
3
|
0 |
3
|
0 |
0 |
6
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
2
|
1
|
2
|
5
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
3
|
0 |
0 |
0 |
0 |
3
|
Illumina Laboratory Services, Illumina
|
0 |
1
|
2
|
0 |
0 |
3
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
1
|
1
|
1
|
0 |
0 |
3
|
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics
|
1
|
0 |
2
|
0 |
0 |
3
|
Genetic Services Laboratory, University of Chicago
|
1
|
1
|
0 |
0 |
0 |
2
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
2
|
0 |
0 |
0 |
0 |
2
|
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
|
2
|
0 |
0 |
0 |
0 |
2
|
Department of Medical Genetics, National Institute of Health
|
0 |
2
|
0 |
0 |
0 |
2
|
Institute of Human Genetics, University of Wuerzburg
|
0 |
1
|
1
|
0 |
0 |
2
|
Undiagnosed Diseases Network, NIH
|
1
|
1
|
0 |
0 |
0 |
2
|
Institute of Human Genetics, University of Leipzig Medical Center
|
2
|
0 |
0 |
0 |
0 |
2
|
Genetic Diseases Diagnostic Center, Koc University Hospital
|
0 |
2
|
0 |
0 |
0 |
2
|
3billion, Medical Genetics
|
0 |
1
|
1
|
0 |
0 |
2
|
Athena Diagnostics
|
1
|
0 |
0 |
0 |
0 |
1
|
Mendelics
|
1
|
0 |
0 |
0 |
0 |
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
0 |
0 |
0 |
0 |
1
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
1
|
0 |
0 |
0 |
0 |
1
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
0 |
0 |
1
|
0 |
0 |
1
|
Clinical Genetics Laboratory, Region Ostergotland
|
0 |
1
|
0 |
0 |
0 |
1
|
GeniaGeo, Laboratorio Genia
|
0 |
1
|
0 |
0 |
0 |
1
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
1
|
0 |
0 |
0 |
0 |
1
|
Pathology and Clinical Laboratory Medicine, King Fahad Medical City
|
1
|
0 |
0 |
0 |
0 |
1
|
James R Lupski Laboratory, Baylor College Of Medicine
|
1
|
0 |
0 |
0 |
0 |
1
|
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital
|
0 |
0 |
1
|
0 |
0 |
1
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
0 |
0 |
1
|
0 |
0 |
1
|
Pars Genome Lab
|
0 |
0 |
1
|
0 |
0 |
1
|
Molecular Genetics, Royal Melbourne Hospital
|
0 |
0 |
1
|
0 |
0 |
1
|
Solve-RD Consortium
|
0 |
1
|
0 |
0 |
0 |
1
|
Breakthrough Genomics, Breakthrough Genomics
|
0 |
1
|
0 |
0 |
0 |
1
|
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