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 |
354
|
129
|
912
|
678
|
52
|
7
|
2024
|
Gene and significance breakdown #
Total genes and gene combinations: 7
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
MEN1
|
349
|
114
|
910
|
678
|
52
|
7
|
2002
|
RET
|
0 |
14
|
0 |
0 |
0 |
0 |
14
|
MAP4K2, MEN1
|
4
|
0 |
0 |
0 |
0 |
0 |
4
|
ATM, C11orf65
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
BAD, CATSPERZ, CCDC88B, COX8A, DNAJC4, ESRRA, FERMT3, FKBP2, FLRT1, GPR137, KCNK4, MACROD1, MAP4K2, MEN1, NRXN2, NUDT22, OTUB1, PLCB3, PPP1R14B, PRDX5, PYGM, RASGRP2, RPS6KA4, SF1, SLC22A11, SLC22A12, STIP1, TRMT112, TRPT1, VEGFB
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
CDC73
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
STK11
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Labcorp Genetics (formerly Invitae), Labcorp
|
324
|
59
|
789
|
650
|
40
|
0 |
1862
|
All of Us Research Program, National Institutes of Health
|
5
|
0 |
127
|
88
|
2
|
0 |
222
|
Baylor Genetics
|
7
|
7
|
115
|
0 |
0 |
0 |
129
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
25
|
21
|
1
|
1
|
0 |
2
|
50
|
Illumina Laboratory Services, Illumina
|
0 |
1
|
22
|
3
|
20
|
0 |
46
|
Myriad Genetics, Inc.
|
17
|
6
|
6
|
5
|
4
|
0 |
38
|
OMIM
|
27
|
0 |
0 |
0 |
0 |
0 |
27
|
Mendelics
|
3
|
2
|
9
|
4
|
4
|
0 |
22
|
Counsyl
|
0 |
2
|
6
|
9
|
2
|
0 |
19
|
Color Diagnostics, LLC DBA Color Health
|
1
|
0 |
1
|
7
|
8
|
0 |
17
|
Database of Curated Mutations (DoCM)
|
0 |
14
|
0 |
0 |
0 |
0 |
14
|
Laboratory of Molecular and Cytogenetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS)
|
5
|
5
|
2
|
0 |
0 |
0 |
12
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
5
|
1
|
2
|
2
|
1
|
0 |
11
|
KCCC/NGS Laboratory, Kuwait Cancer Control Center
|
1
|
0 |
0 |
6
|
4
|
0 |
11
|
Center for Human Genetics, Inc, Center for Human Genetics, Inc
|
4
|
3
|
1
|
1
|
0 |
0 |
9
|
Revvity Omics, Revvity
|
1
|
1
|
6
|
0 |
0 |
0 |
8
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
5
|
1
|
2
|
0 |
8
|
MGZ Medical Genetics Center
|
1
|
4
|
2
|
0 |
0 |
0 |
7
|
Division of Hepatobiliary and Pancreatic Surgery, Department of Surgery, Yonsei University College of Medicine
|
3
|
4
|
0 |
0 |
0 |
0 |
7
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
4
|
1
|
0 |
0 |
0 |
0 |
5
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
2
|
1
|
0 |
0 |
0 |
3
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
St. Jude Molecular Pathology, St. Jude Children's Research Hospital
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
MVZ Medizinische Genetik Mainz
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Genetic Services Laboratory, University of Chicago
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, Cologne University
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
CSER _CC_NCGL, University of Washington
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Center for Human Genetics, University of Leuven
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Human Genetics Unit, University Of Colombo
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Department of Laboratory Medicine, Soonchunhyang University Seoul Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Johns Hopkins Genomics, Johns Hopkins University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
University of Washington Department of Laboratory Medicine, University of Washington
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
deCODE genetics, Amgen
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University Hospital Muenster
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
New York Genome Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Liaoning Provincial Key Laboratory of Endocrine Diseases, The First Hospital of China Medical University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
DASA
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Neuberg Centre For Genomic Medicine, NCGM
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genomics England Pilot Project, Genomics England
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Department of Human Genetics, Hannover Medical School
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Regional Center For Medical Genetics Timis, Louis Turcanu Emergency Hospital for Children Timisoara
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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