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 |
risk factor |
not provided |
total |
19
|
12
|
670
|
425
|
116
|
2
|
2
|
1216
|
Gene and significance breakdown #
Total genes and gene combinations: 11
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
risk factor |
not provided |
total |
CARD14
|
6
|
3
|
354
|
230
|
49
|
0 |
0 |
639
|
CARD14, SGSH
|
0 |
0 |
156
|
97
|
32
|
0 |
0 |
283
|
IL36RN
|
12
|
7
|
100
|
59
|
23
|
0 |
2
|
179
|
CARD14, LOC126862662, SGSH
|
0 |
0 |
57
|
37
|
10
|
0 |
0 |
104
|
AP1S3
|
0 |
0 |
0 |
2
|
1
|
2
|
0 |
4
|
CARD14, CCDC40, EIF4A3, GAA
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
C1QTNF1, CANT1, CARD14, CBX2, CBX4, CBX8, CCDC40, EIF4A3, ENGASE, ENPP7, GAA, LGALS3BP, RBFOX3, RNF213, SGSH, SLC26A11, TBC1D16, TIMP2
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
IL17RA
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
IL1F10, IL1RN, IL36RN
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
IL1F10, IL36RN
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
LPIN2
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
risk factor |
not provided |
total |
Labcorp Genetics (formerly Invitae), Labcorp
|
9
|
7
|
622
|
413
|
88
|
0 |
0 |
1139
|
Illumina Laboratory Services, Illumina
|
1
|
1
|
39
|
5
|
21
|
0 |
0 |
67
|
OMIM
|
12
|
0 |
0 |
0 |
0 |
2
|
0 |
14
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
7
|
6
|
1
|
0 |
0 |
14
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
12
|
0 |
0 |
12
|
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic
|
0 |
0 |
6
|
0 |
0 |
0 |
0 |
6
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
3
|
1
|
0 |
0 |
0 |
4
|
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital
|
0 |
0 |
0 |
1
|
1
|
0 |
0 |
2
|
Baylor Genetics
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Revvity Omics, Revvity
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
MGZ Medical Genetics Center
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Mendelics
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Clinical Genomics Laboratory, Washington University in St. Louis
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Nemer Genomics and Translation Biomedicine Lab, American University of Beirut
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Reproductive Health Research and Development, BGI Genomics
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
New York Genome Center
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Department of Human Genetics, Hannover Medical School
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Medical Laboratory Center, Huzhou Maternal and Child Health Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
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