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 |
241
|
227
|
205
|
271
|
36
|
2
|
809
|
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 |
ACADM
|
240
|
227
|
204
|
267
|
36
|
2
|
803
|
ACADM, LOC129930773
|
0 |
0 |
0 |
4
|
0 |
0 |
4
|
ACADM, ASB17, LOC101927342, LOC129930768, LOC129930769, LOC129930770, LOC129930771, LOC129930772, LOC129930773, LOC129930774, LOC129930775, LOC129930776, LOC129930777, LOC129930778, LOC129930779, LOC129930780, MSH4, RABGGTB, SLC44A5, SNORD45A, SNORD45B, SNORD45C, ST6GALNAC3
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
ACADM, LOC129930772
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Labcorp Genetics (formerly Invitae), Labcorp
|
218
|
64
|
106
|
258
|
12
|
0 |
658
|
Baylor Genetics
|
68
|
86
|
1
|
0 |
0 |
0 |
155
|
Natera, Inc.
|
29
|
11
|
53
|
16
|
17
|
0 |
126
|
Counsyl
|
7
|
53
|
33
|
2
|
1
|
0 |
96
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
29
|
12
|
25
|
0 |
20
|
0 |
86
|
Illumina Laboratory Services, Illumina
|
2
|
1
|
32
|
7
|
10
|
0 |
52
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
33
|
17
|
0 |
0 |
0 |
0 |
50
|
Revvity Omics, Revvity
|
10
|
12
|
9
|
0 |
0 |
0 |
31
|
Fulgent Genetics, Fulgent Genetics
|
10
|
6
|
4
|
2
|
0 |
0 |
22
|
OMIM
|
15
|
0 |
0 |
0 |
0 |
0 |
15
|
Myriad Genetics, Inc.
|
3
|
12
|
0 |
0 |
0 |
0 |
15
|
Genome-Nilou Lab
|
0 |
0 |
2
|
1
|
11
|
0 |
14
|
MGZ Medical Genetics Center
|
3
|
2
|
2
|
0 |
0 |
0 |
7
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
4
|
3
|
0 |
0 |
0 |
0 |
7
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
4
|
0 |
1
|
1
|
0 |
0 |
6
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
0 |
5
|
1
|
0 |
0 |
0 |
6
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
3
|
2
|
0 |
0 |
0 |
0 |
5
|
Mendelics
|
4
|
1
|
0 |
0 |
0 |
0 |
5
|
Neuberg Centre For Genomic Medicine, NCGM
|
3
|
0 |
2
|
0 |
0 |
0 |
5
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Undiagnosed Diseases Network, NIH
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Genetics and Molecular Pathology, SA Pathology
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Neonatal Disease Screening Center, Medical Genetics Center, Huaihua City Maternal and Child Health Care Hospital
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Elsea Laboratory, Baylor College of Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Courtagen Diagnostics Laboratory, Courtagen Life Sciences
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Reproductive Health Research and Development, BGI Genomics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University Hospital Muenster
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
New York Genome Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
3billion
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
DASA
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Department of Human Genetics, Hannover Medical School
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Department of Genetics, Suzhou Beikang Medical Laboratory
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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health behavior solely on the basis of information contained on
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