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 |
association |
not provided |
total |
198
|
72
|
1115
|
747
|
308
|
1
|
12
|
2382
|
Gene and significance breakdown #
Total genes and gene combinations: 36
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
association |
not provided |
total |
ELN
|
106
|
31
|
332
|
262
|
76
|
0 |
3
|
771
|
NOTCH1
|
7
|
8
|
259
|
186
|
180
|
0 |
7
|
629
|
SMAD6
|
8
|
7
|
408
|
182
|
14
|
0 |
1
|
609
|
TBX5
|
65
|
9
|
78
|
105
|
27
|
0 |
0 |
284
|
LOC126860794, NOTCH1
|
1
|
1
|
4
|
9
|
9
|
0 |
1
|
25
|
ROBO4
|
2
|
13
|
10
|
1
|
0 |
0 |
0 |
23
|
LOC130003020, NOTCH1
|
0 |
0 |
3
|
0 |
1
|
0 |
0 |
4
|
TBX20
|
0 |
0 |
4
|
0 |
0 |
0 |
0 |
4
|
intergenic
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
DSP
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
2
|
ELN, LOC113748410
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
MIR4673, NOTCH1
|
0 |
0 |
0 |
1
|
1
|
0 |
0 |
2
|
MT-ATP6
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
2
|
ABCC6, NOMO3
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
ABHD11, CLDN3, CLDN4, EIF4H, ELN, LIMK1, METTL27, TMEM270
|
1
|
0 |
0 |
0 |
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 |
0 |
1
|
COL5A1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
DGCR6, PRODH, USP18
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
DPY19L1, NPSR1, TBX20
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
DSG1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
FBN1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
FBN3
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
FOXP1
|
0 |
0 |
0 |
0 |
0 |
1
|
0 |
1
|
GATA5
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
HRAS, LRRC56
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
KLF12
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
LCTL, SMAD3, SMAD6, ZWILCH
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
LOC110120917, LOC111413015, LOC111413043, LOC121847954, LOC125110346, LOC125110347, LOC126862158, LOC126862159, LOC126862160, LOC130057347, LOC130057348, LOC130057349, LOC130057350, LOC130057351, LOC130057352, LOC132090322, LOC132090323, SMAD3, SMAD3-DT, SMAD6, SMASR
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
LOC126859827, TAB2
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
LSM1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
MT-ATP8
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
MYH11
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
PDIA2
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
PTPRJ
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
SLC2A10
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
ZNF626
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
association |
not provided |
total |
Invitae
|
145
|
30
|
760
|
527
|
103
|
0 |
0 |
1565
|
Genome-Nilou Lab
|
0 |
0 |
217
|
178
|
192
|
0 |
0 |
587
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
51
|
29
|
27
|
0 |
0 |
107
|
Fulgent Genetics, Fulgent Genetics
|
0 |
2
|
59
|
24
|
9
|
0 |
0 |
94
|
OMIM
|
24
|
0 |
0 |
0 |
0 |
0 |
0 |
24
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
20
|
4
|
0 |
0 |
0 |
0 |
0 |
24
|
Baylor Genetics
|
1
|
4
|
18
|
0 |
0 |
0 |
0 |
23
|
Centre of Medical Genetics, University of Antwerp
|
3
|
1
|
15
|
0 |
0 |
0 |
0 |
19
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
12
|
1
|
0 |
0 |
0 |
13
|
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine
|
0 |
11
|
1
|
0 |
0 |
0 |
0 |
12
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
6
|
5
|
0 |
0 |
11
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
1
|
2
|
6
|
0 |
0 |
0 |
0 |
9
|
Revvity Omics, Revvity
|
0 |
1
|
7
|
0 |
0 |
0 |
0 |
8
|
New York Genome Center
|
0 |
0 |
7
|
0 |
0 |
0 |
0 |
7
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
0 |
7
|
7
|
Blueprint Genetics
|
0 |
0 |
5
|
1
|
0 |
0 |
0 |
6
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
1
|
5
|
0 |
0 |
0 |
0 |
6
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
1
|
3
|
1
|
0 |
0 |
0 |
5
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
0 |
5
|
5
|
Molecular Biology Laboratory, University of Basrah
|
2
|
1
|
0 |
0 |
0 |
0 |
0 |
3
|
Johns Hopkins Genomics, Johns Hopkins University
|
0 |
2
|
1
|
0 |
0 |
0 |
0 |
3
|
3billion
|
2
|
1
|
0 |
0 |
0 |
0 |
0 |
3
|
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Institute of Human Genetics, University of Goettingen
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
2
|
MGZ Medical Genetics Center
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Andelfinger Lab, Centre de Recherche, CHU Sainte Justine
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Genomic Medicine Lab, University of California San Francisco
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
2
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Molecular Genetics, Royal Melbourne Hospital
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, Cologne University
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Mendelics
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Garg Lab, Nationwide Children's Hospital
|
0 |
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
UCLA Clinical Genomics Center, UCLA
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Laboratory Genomica, Gynecology and Assisted Reproduction Hospital Malinov DM
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Department of Traditional Chinese Medicine, Fujian Provincial Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Wendy Chung Laboratory, Columbia University Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Center of Excellence for Medical Genomics, Chulalongkorn University
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Suma Genomics
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Provincial Medical Genetics Program of British Columbia, University of British Columbia
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Cardiology, Hunan Children’s Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
KardioGenetik, Herz- und Diabeteszentrum NRW
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Medizinische Genetik Mainz, Limbach Genetics GmbH
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genomics And Bioinformatics Analysis Resource, Columbia University
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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genetics professional. Individuals should not change their
health behavior solely on the basis of information contained on
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Institutes of Health independently verfies the submitted
information. If you have questions about the information
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