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 |
102
|
30
|
272
|
355
|
91
|
1
|
832
|
Gene and significance breakdown #
Total genes and gene combinations: 8
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
WAS
|
98
|
30
|
143
|
234
|
53
|
1
|
542
|
WIPF1
|
3
|
0 |
126
|
115
|
14
|
0 |
256
|
WRN
|
0 |
0 |
0 |
6
|
23
|
0 |
29
|
AKAP4, BMP15, CACNA1F, CCDC120, CCDC22, CCNB3, CLCN5, DGKK, EBP, ERAS, FOXP3, GAGE1, GAGE12B, GAGE12C, GAGE12D, GAGE12E, GAGE12F, GAGE12G, GAGE12H, GAGE12I, GAGE12J, GAGE13, GAGE2A, GAGE2B, GAGE2C, GAGE2D, GAGE2E, GAGE8, GATA1, GLOD5, GPKOW, GRIPAP1, HDAC6, KCND1, MAGIX, MIR502, MIR532, NUDT10, NUDT11, OTUD5, PAGE1, PAGE4, PCSK1N, PIM2, PLP2, PORCN, PPP1R3F, PQBP1, PRAF2, PRICKLE3, RBM3, SHROOM4, SLC35A2, SUV39H1, SYP, TBC1D25, TFE3, TIMM17B, USP27X, WAS, WDR13, WDR45
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
ARAF, CDK16, CFP, EBP, ELK1, FTSJ1, INE1, JADE3, LINC01560, NDUFB11, PORCN, RBM10, RBM3, RGN, RP2, SLC38A5, SLC9A7, SPACA5, SPACA5B, SSX1, SSX3, SSX4, SSX4B, SSX5, SYN1, TBC1D25, TIMP1, UBA1, USP11, UXT, WAS, WDR13, ZNF157, ZNF182, ZNF41, ZNF630, ZNF81
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
CHRNA1, WIPF1
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
LOC126860342, WRN
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
LOC129935136, WIPF1
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
81
|
7
|
260
|
341
|
67
|
0 |
756
|
KCCC/NGS Laboratory, Kuwait Cancer Control Center
|
0 |
1
|
0 |
9
|
27
|
0 |
37
|
Fulgent Genetics, Fulgent Genetics
|
2
|
0 |
14
|
16
|
1
|
0 |
33
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
9
|
9
|
0 |
0 |
0 |
0 |
18
|
OMIM
|
17
|
0 |
0 |
0 |
0 |
0 |
17
|
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology
|
2
|
2
|
4
|
0 |
0 |
0 |
8
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
1
|
0 |
5
|
0 |
0 |
0 |
6
|
San Raffaele Telethon Institute for Gene Therapy, San Raffaele Hospital
|
4
|
0 |
0 |
0 |
0 |
0 |
4
|
3billion
|
0 |
3
|
1
|
0 |
0 |
0 |
4
|
Baylor Genetics
|
1
|
1
|
1
|
0 |
0 |
0 |
3
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
1
|
1
|
1
|
0 |
0 |
0 |
3
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Neil Romberg Laboratory, Children's Hospital of Philadelphia
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Revvity Omics, Revvity
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
MGZ Medical Genetics Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Mendelics
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Dr. Faghihi's Medical Genetic Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
St. Jude Molecular Pathology, St. Jude Children's Research Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Genomics Facility, Ludwig-Maximilians-Universität München
|
1
|
0 |
0 |
0 |
0 |
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
|
MAGIC Laboratory, Stellenbosch University
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
GenomeConnect - Brain Gene Registry
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Unidad de Medicina Traslacional, Hospital de Ninos Ricardo Gutierrez
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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