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 |
119
|
179
|
121
|
255
|
40
|
2
|
645
|
Gene and significance breakdown #
Total genes and gene combinations: 9
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
G6PD
|
114
|
172
|
105
|
246
|
34
|
2
|
603
|
G6PD, IKBKG
|
3
|
5
|
14
|
9
|
3
|
0 |
33
|
G6PD, IKBKG, LOC107181288
|
1
|
0 |
0 |
0 |
1
|
0 |
2
|
G6PD, IKBKG, LOC108281126
|
0 |
0 |
0 |
0 |
2
|
0 |
2
|
ABCD1, ARHGAP4, ATP2B3, ATP6AP1, AVPR2, BCAP31, BGN, BRCC3, CCNQ, CLIC2, CMC4, CTAG1A, CTAG1B, CTAG2, DKC1, DNASE1L1, DUSP9, EMD, F8, F8A1, FAM3A, FAM50A, FLNA, FUNDC2, G6PD, GAB3, GDI1, H2AB1, HAUS7, HCFC1, IDH3G, IKBKG, IRAK1, L1CAM, LAGE3, MAGEA1, MECP2, MPP1, MTCP1, NAA10, NSDHL, OPN1LW, OPN1MW, OPN1MW2, PDZD4, PLXNA3, PLXNB3, PNCK, PNMA3, PNMA5, PNMA6A, PNMA6E, RAB39B, RENBP, RPL10, SLC10A3, SLC6A8, SMIM9, SRPK3, SSR4, TAFAZZIN, TEX28, TKTL1, TMEM187, TREX2, UBL4A, VBP1, ZFP92, ZNF185, ZNF275
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
ATP6AP1, DNASE1L1, FAM3A, FAM50A, G6PD, GDI1, IKBKG, LAGE3, PLXNA3, SLC10A3, TAFAZZIN, UBL4A
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
G6PD, IKBKG, LOC107181288, LOC129929052
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
G6PD, IKBKG, LOC107181288, LOC130068881
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
TAFAZZIN
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
42
|
16
|
93
|
252
|
21
|
0 |
424
|
Dunham Lab, University of Washington
|
96
|
148
|
17
|
3
|
20
|
0 |
284
|
Revvity Omics, Revvity
|
14
|
15
|
9
|
0 |
0 |
0 |
38
|
Mendelics
|
29
|
1
|
2
|
0 |
0 |
0 |
32
|
OMIM
|
16
|
0 |
0 |
0 |
0 |
0 |
16
|
Lifecell International Pvt. Ltd
|
8
|
2
|
1
|
0 |
0 |
0 |
11
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
8
|
1
|
0 |
0 |
0 |
0 |
9
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
2
|
3
|
2
|
0 |
0 |
0 |
7
|
Baylor Genetics
|
6
|
0 |
0 |
0 |
0 |
0 |
6
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
6
|
0 |
0 |
0 |
0 |
0 |
6
|
Counsyl
|
5
|
0 |
0 |
0 |
0 |
0 |
5
|
MGZ Medical Genetics Center
|
4
|
0 |
0 |
0 |
0 |
0 |
4
|
Centogene AG - the Rare Disease Company
|
3
|
1
|
0 |
0 |
0 |
0 |
4
|
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center
|
4
|
0 |
0 |
0 |
0 |
0 |
4
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
4
|
0 |
0 |
0 |
0 |
0 |
4
|
Courtagen Diagnostics Laboratory, Courtagen Life Sciences
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
3
|
0 |
0 |
0 |
0 |
3
|
Johns Hopkins Genomics, Johns Hopkins University
|
1
|
2
|
0 |
0 |
0 |
0 |
3
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
New York Genome Center
|
2
|
0 |
1
|
0 |
0 |
0 |
3
|
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Division of Human Genetics, Children's Hospital of Philadelphia
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Genetics and Molecular Pathology, SA Pathology
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
1
|
0 |
0 |
0 |
1
|
0 |
2
|
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
3billion
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
UCLA Clinical Genomics Center, UCLA
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Center of Genomic medicine, Geneva, University Hospital of Geneva
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
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
|
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genome-Nilou Lab
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Pediatrics, Sichuan Provincial Hospital For Women And Children
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Breakthrough Genomics, Breakthrough Genomics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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