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 |
314
|
315
|
729
|
1109
|
58
|
22
|
2315
|
Gene and significance breakdown #
Total genes and gene combinations: 7
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
PCCA
|
165
|
162
|
379
|
589
|
40
|
6
|
1223
|
PCCB
|
143
|
152
|
341
|
515
|
18
|
16
|
1071
|
GGACT, PCCA
|
5
|
0 |
8
|
4
|
0 |
0 |
17
|
BIVM, BIVM-ERCC5, CCDC168, CLYBL, ERCC5, FGF14, GGACT, ITGBL1, METTL21C, NALCN, PCCA, POGLUT2, SLC10A2, TEX30, TM9SF2, TMTC4, TPP2, UBAC2, ZIC2, ZIC5
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
LOC112163638, LOC124946329, PCCA
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
LOC124946329, PCCA
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
LOC130010061, PCCA
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
257
|
112
|
563
|
1087
|
47
|
0 |
2066
|
Natera, Inc.
|
28
|
7
|
93
|
22
|
16
|
0 |
166
|
Baylor Genetics
|
61
|
94
|
3
|
0 |
0 |
0 |
158
|
Counsyl
|
11
|
61
|
43
|
9
|
0 |
0 |
124
|
Illumina Laboratory Services, Illumina
|
2
|
1
|
98
|
9
|
6
|
0 |
116
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
36
|
21
|
0 |
0 |
0 |
0 |
57
|
Revvity Omics, Revvity
|
10
|
12
|
20
|
0 |
0 |
0 |
42
|
Fulgent Genetics, Fulgent Genetics
|
13
|
7
|
14
|
6
|
0 |
0 |
40
|
Myriad Genetics, Inc.
|
1
|
29
|
1
|
0 |
0 |
0 |
31
|
Laboratory of Metabolic Disorders, Peking University First Hospital
|
12
|
17
|
0 |
0 |
0 |
0 |
29
|
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital
|
26
|
0 |
0 |
0 |
2
|
0 |
28
|
GeneReviews
|
1
|
0 |
0 |
0 |
0 |
20
|
21
|
Genome-Nilou Lab
|
0 |
0 |
13
|
1
|
6
|
0 |
20
|
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics
|
9
|
4
|
3
|
0 |
0 |
0 |
16
|
OMIM
|
15
|
0 |
0 |
0 |
0 |
0 |
15
|
Mendelics
|
11
|
0 |
2
|
0 |
1
|
0 |
14
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
1
|
0 |
2
|
2
|
5
|
0 |
10
|
Pars Genome Lab
|
0 |
0 |
0 |
1
|
8
|
0 |
9
|
3billion
|
3
|
3
|
2
|
0 |
0 |
0 |
8
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
2
|
0 |
4
|
0 |
0 |
0 |
6
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
0 |
2
|
0 |
0 |
0 |
3
|
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
|
0 |
2
|
1
|
0 |
0 |
0 |
3
|
Center for Molecular Medicine, Children’s Hospital of Fudan University
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
2
|
0 |
0 |
1
|
0 |
0 |
3
|
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Centogene AG - the Rare Disease Company
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Ege University Pediatric Genetics, Ege University
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
0 |
2
|
0 |
2
|
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Pathology and Clinical Laboratory Medicine, King Fahad Medical City
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
New York Genome Center
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
DASA
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Elsea Laboratory, Baylor College of Medicine
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Centre for Inherited Metabolic Diseases, Karolinska University Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Laboratoire de Génétique Moléculaire, CHU Bordeaux
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Division of Genetic Medicine, Lausanne University Hospital
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Lifecell International Pvt. Ltd
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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