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 |
15
|
24
|
290
|
196
|
191
|
8
|
706
|
Gene and significance breakdown #
Total genes and gene combinations: 27
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
NOTCH1
|
7
|
8
|
259
|
186
|
180
|
7
|
629
|
LOC126860794, NOTCH1
|
1
|
1
|
4
|
9
|
9
|
1
|
25
|
ROBO4
|
0 |
11
|
1
|
0 |
0 |
0 |
12
|
SMAD6
|
2
|
1
|
6
|
0 |
0 |
0 |
9
|
LOC130003020, NOTCH1
|
0 |
0 |
3
|
0 |
1
|
0 |
4
|
TBX20
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
MIR4673, NOTCH1
|
0 |
0 |
0 |
1
|
1
|
0 |
2
|
MT-ATP6
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
intergenic
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
ABCC6, NOMO3
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
ARF1, BTNL10, C1orf35, GJC2, GUK1, H2AC25, H2BC26, H3-4, IBA57, MRPL55, OBSCN, RHOU, RNF187, TRIM11, TRIM17, WNT3A
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
COL5A1
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
DGCR6, PRODH, USP18
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
DPY19L1, NPSR1, TBX20
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
DSG1
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
DSP
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
FBN3
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
GATA5
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
KLF12
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
LCTL, SMAD3, SMAD6, ZWILCH
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
LOC126859827, TAB2
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
LSM1
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
MT-ATP8
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
MYH11
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
PDIA2
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
SLC2A10
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
ZNF626
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Genome-Nilou Lab
|
0 |
0 |
217
|
178
|
191
|
0 |
586
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
45
|
18
|
8
|
0 |
71
|
Centre of Medical Genetics, University of Antwerp
|
3
|
1
|
15
|
0 |
0 |
0 |
19
|
Baylor Genetics
|
1
|
0 |
13
|
0 |
0 |
0 |
14
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
12
|
1
|
0 |
0 |
13
|
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine
|
0 |
11
|
1
|
0 |
0 |
0 |
12
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
6
|
5
|
0 |
11
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
1
|
2
|
5
|
0 |
0 |
0 |
8
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
6
|
6
|
OMIM
|
4
|
0 |
0 |
0 |
0 |
0 |
4
|
Blueprint Genetics
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
New York Genome Center
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
Molecular Biology Laboratory, University of Basrah
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
Johns Hopkins Genomics, Johns Hopkins University
|
0 |
2
|
1
|
0 |
0 |
0 |
3
|
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
MGZ Medical Genetics Center
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Andelfinger Lab, Centre de Recherche, CHU Sainte Justine
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
UCLA Clinical Genomics Center, UCLA
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Department of Traditional Chinese Medicine, Fujian Provincial Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Wendy Chung Laboratory, Columbia University Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Provincial Medical Genetics Program of British Columbia, University of British Columbia
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Medizinische Genetik Mainz, Limbach Genetics GmbH
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Genomics And Bioinformatics Analysis Resource, Columbia University
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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