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 |
|
129
|
24
|
1980
|
1189
|
702
|
9
|
3453
|
Gene and significance breakdown #
Total genes and gene combinations: 4
| Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
AXIN2
|
129
|
23
|
1978
|
1188
|
702
|
9
|
3449
|
|
AXIN2, LOC129390913
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
|
AXIN2, GNA13, LINC02563, LOC100507002, LOC110121386, LOC121852944, LOC126862618, LOC129390912, LOC129390913, LOC130061458, LOC130061459, LOC130061460, LOC130061461, LOC130061462, LOC130061463, LOC130061464, LOC130061465, RGS9
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
IFT172
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
Labcorp Genetics (formerly Invitae), Labcorp
|
104
|
13
|
1928
|
1141
|
46
|
0 |
3232
|
|
Myriad Genetics, Inc.
|
47
|
5
|
0 |
145
|
652
|
0 |
849
|
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
54
|
11
|
49
|
0 |
114
|
|
KCCC/NGS Laboratory, Kuwait Cancer Control Center
|
0 |
0 |
3
|
4
|
35
|
0 |
42
|
|
St. Jude Molecular Pathology, St. Jude Children's Research Hospital
|
0 |
0 |
31
|
0 |
0 |
0 |
31
|
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
2
|
6
|
9
|
0 |
17
|
|
Molecular Pathology, Peter Maccallum Cancer Centre
|
2
|
1
|
9
|
2
|
0 |
0 |
14
|
|
Baylor Genetics
|
0 |
1
|
9
|
0 |
0 |
0 |
10
|
|
Revvity Omics, Revvity
|
0 |
1
|
7
|
0 |
0 |
0 |
8
|
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
6
|
0 |
6
|
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
6
|
6
|
|
Mendelics
|
0 |
0 |
2
|
2
|
1
|
0 |
5
|
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
3
|
3
|
|
Center of Excellence in Genomics and Precision Dentistry, Faculty of Dentistry, Chulalongkorn University
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
0 |
0 |
0 |
2
|
0 |
0 |
2
|
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
MGZ Medical Genetics Center
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
|
Molecular Oncology Laboratory, Hospital Clínico San Carlos
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
OMIM
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
Variantyx, Inc.
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Helix
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Institute of Human Genetics, Heidelberg University
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
MVZ Medizinische Genetik Mainz
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
State Key Laboratory of Oral & Maxillofacial Reconstruction and Regeneration, Key Laboratory of Oral Biomedicine Ministry of Education, Hubei Key Laboratory of Stomatology, School & Hospital of Stomatology, Wuhan University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
University of Washington Department of Laboratory Medicine, University of Washington
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
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health behavior solely on the basis of information contained on
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