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 |
175
|
297
|
968
|
443
|
190
|
10
|
1959
|
Gene and significance breakdown #
Total genes and gene combinations: 21
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
AP3B1
|
35
|
28
|
374
|
253
|
45
|
1
|
694
|
HPS1
|
33
|
67
|
135
|
47
|
46
|
4
|
300
|
HPS4
|
14
|
38
|
121
|
18
|
23
|
1
|
203
|
HPS3
|
17
|
88
|
63
|
13
|
20
|
1
|
191
|
BLOC1S6
|
13
|
10
|
62
|
75
|
7
|
1
|
162
|
HPS5
|
21
|
6
|
80
|
12
|
19
|
0 |
134
|
CP, HPS3
|
10
|
28
|
45
|
12
|
15
|
0 |
101
|
HPS6
|
12
|
22
|
43
|
3
|
8
|
1
|
87
|
HPS6, LOC130004578
|
5
|
5
|
9
|
1
|
1
|
0 |
18
|
DTNBP1
|
3
|
2
|
10
|
3
|
0 |
0 |
17
|
BLOC1S3
|
5
|
0 |
6
|
1
|
1
|
0 |
13
|
AP3D1
|
1
|
1
|
8
|
2
|
0 |
0 |
12
|
HPS5, LOC126861152
|
0 |
0 |
8
|
0 |
4
|
0 |
12
|
HPS4, LOC130067147
|
0 |
0 |
1
|
1
|
1
|
0 |
3
|
HPS5, LOC130005404
|
0 |
0 |
2
|
1
|
0 |
0 |
3
|
BLOC1S5
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
BLOC1S5, BLOC1S5-TXNDC5, EEF1E1-BLOC1S5
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
HPS1, LOC130004494
|
0 |
0 |
1
|
1
|
0 |
0 |
2
|
intergenic
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
AGGF1, AP3B1, ARSB, CRHBP, F2RL1, LHFPL2, OTP, PDE8B, S100Z, SCAMP1, TBCA, WDR41, ZBED3
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
HPS1, MIR4685
|
1
|
1
|
0 |
0 |
0 |
1
|
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
38
|
10
|
377
|
313
|
48
|
0 |
786
|
Illumina Laboratory Services, Illumina
|
0 |
1
|
446
|
65
|
115
|
0 |
627
|
Baylor Genetics
|
47
|
157
|
6
|
0 |
0 |
0 |
210
|
Natera, Inc.
|
14
|
5
|
72
|
31
|
38
|
0 |
160
|
Fulgent Genetics, Fulgent Genetics
|
16
|
8
|
74
|
40
|
3
|
0 |
141
|
OMIM
|
57
|
0 |
0 |
0 |
0 |
0 |
57
|
Genome-Nilou Lab
|
1
|
0 |
1
|
1
|
40
|
0 |
43
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
14
|
11
|
14
|
0 |
0 |
0 |
39
|
Revvity Omics, Revvity
|
10
|
12
|
14
|
0 |
0 |
0 |
36
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
10
|
25
|
0 |
0 |
0 |
0 |
35
|
Myriad Genetics, Inc.
|
1
|
34
|
0 |
0 |
0 |
0 |
35
|
NIHR Bioresource Rare Diseases, University of Cambridge
|
11
|
17
|
3
|
0 |
0 |
0 |
30
|
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology
|
6
|
3
|
15
|
0 |
1
|
0 |
25
|
Laboratoire de Génétique Moléculaire, CHU Bordeaux
|
11
|
2
|
0 |
0 |
0 |
0 |
13
|
Johns Hopkins Genomics, Johns Hopkins University
|
1
|
0 |
4
|
3
|
4
|
0 |
12
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
10
|
1
|
0 |
0 |
11
|
GeneReviews
|
2
|
0 |
0 |
0 |
0 |
8
|
10
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
0 |
0 |
10
|
0 |
0 |
0 |
10
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
4
|
3
|
0 |
0 |
0 |
7
|
Genetic Services Laboratory, University of Chicago
|
5
|
1
|
0 |
0 |
0 |
0 |
6
|
University of Washington Center for Mendelian Genomics, University of Washington
|
0 |
6
|
0 |
0 |
0 |
0 |
6
|
Genetics and Molecular Pathology, SA Pathology
|
1
|
1
|
4
|
0 |
0 |
0 |
6
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
3
|
2
|
0 |
0 |
0 |
0 |
5
|
Blood Cell Research, Sanquin
|
5
|
0 |
0 |
0 |
0 |
0 |
5
|
Laboratoire de Genetique Moleculaire, Centre Hospitalier Universitaire de Bordeaux
|
5
|
0 |
0 |
0 |
0 |
0 |
5
|
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University
|
0 |
5
|
0 |
0 |
0 |
0 |
5
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
4
|
0 |
0 |
4
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
3
|
0 |
0 |
3
|
Counsyl
|
0 |
1
|
0 |
1
|
1
|
0 |
3
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Center of Medical Genetics, Central South University
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
1
|
2
|
0 |
0 |
0 |
0 |
3
|
3billion
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
0 |
1
|
1
|
0 |
0 |
2
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Randwick Genomics Laboratory, Prince of Wales Hospital Sydney, Australia, New South Wales Health Pathology
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
New York Genome Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Lifecell International Pvt. Ltd
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Suma Genomics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
DASA
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Markle Lab, Division of Molecular Pathogenesis, Vanderbilt University Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Genomics And Bioinformatics Analysis Resource, Columbia University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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