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 |
71
|
18
|
282
|
137
|
178
|
4
|
668
|
Gene and significance breakdown #
Total genes and gene combinations: 25
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
BMPR1B
|
7
|
1
|
146
|
90
|
57
|
2
|
290
|
ROR2
|
10
|
3
|
86
|
39
|
65
|
1
|
198
|
IHH
|
10
|
7
|
29
|
4
|
26
|
0 |
74
|
GDF5
|
10
|
3
|
10
|
3
|
19
|
0 |
44
|
PDE3A
|
7
|
1
|
1
|
1
|
4
|
0 |
14
|
HOXD13
|
6
|
0 |
3
|
0 |
1
|
0 |
10
|
GDF5, LOC109461476
|
0 |
0 |
4
|
0 |
5
|
0 |
9
|
PTHLH
|
5
|
0 |
0 |
0 |
1
|
0 |
6
|
NOG
|
4
|
1
|
0 |
0 |
0 |
0 |
5
|
BMP2
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
PRMT7
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
intergenic
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
ALKBH5, ATPAF2, COPS3, DRC3, DRG2, FLCN, FLII, GID4, LLGL1, MED9, MIEF2, MIR33B, MPRIP, MYO15A, NT5M, PEMT, PLD6, RAI1, RASD1, SREBF1, TOM1L2, TOP3A
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
BPHL, DUSP22, EXOC2, FOXC1, FOXF2, FOXQ1, GMDS, HUS1B, IRF4, LINC01600, MYLK4, NQO2, RIPK1, SERPINB1, SERPINB6, SERPINB9, TUBB2A, WRNIP1
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
CHST11
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
GNAS
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
IQCE
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
LOC124625920, PDE3A
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
LOC126862264, MEFV
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
NIPBL
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
PPP2R1A
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
SCAPER
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
SIM1
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
TRPS1
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
TULP1
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Illumina Laboratory Services, Illumina
|
0 |
0 |
148
|
27
|
163
|
0 |
338
|
Invitae
|
1
|
1
|
83
|
81
|
14
|
0 |
180
|
Fulgent Genetics, Fulgent Genetics
|
2
|
2
|
48
|
30
|
2
|
0 |
84
|
OMIM
|
45
|
0 |
0 |
0 |
0 |
0 |
45
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
11
|
0 |
11
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
4
|
2
|
1
|
0 |
0 |
0 |
7
|
Wanghongyan lab, Fudan University
|
0 |
5
|
0 |
0 |
0 |
0 |
5
|
Baylor Genetics
|
3
|
0 |
1
|
0 |
0 |
0 |
4
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
4
|
4
|
Revvity Omics, Revvity
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Center for Personalized Medicine, Children's Hospital Los Angeles
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
3billion
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Centogene AG - the Rare Disease Company
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Nowon Eulji Medical Center, Nowon Eulji Medical Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Federico II University of Naples
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital
|
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
|
The Morris Kahn Laboratory of Human Genetics, Ben-Gurion University of the Negev
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Dept of Molecular Biology and Genetics, Bogazici University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Tolun Lab, Human Genetics Laboratory, Bogazici University
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Department of Respiratory and Critical Care Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Breda Genetics srl
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Clinical Genomics Program, Stanford Medicine
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Department of Hand Surgery, Beijing Jishuitan Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Molecular Genetics, Royal Melbourne Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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