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 |
65
|
115
|
291
|
6
|
15
|
3
|
473
|
Gene and significance breakdown #
Total genes and gene combinations: 6
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
LZTR1
|
42
|
107
|
247
|
1
|
0 |
2
|
378
|
SMARCB1
|
14
|
2
|
19
|
3
|
15
|
1
|
53
|
NF2
|
5
|
3
|
10
|
2
|
0 |
0 |
20
|
LOC130067016, LZTR1
|
3
|
3
|
13
|
0 |
0 |
0 |
19
|
DERL3, SMARCB1
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
BCR, C22orf15, CHCHD10, DERL3, DRICH1, GGTLC2, GNAZ, IGLC1, IGLL1, IGLL5, MMP11, PRAME, RAB36, RGL4, RSPH14, SMARCB1, VPREB3, ZNF70
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Baylor Genetics
|
19
|
77
|
242
|
0 |
0 |
0 |
337
|
Illumina Laboratory Services, Illumina
|
1
|
2
|
18
|
3
|
15
|
0 |
39
|
Fulgent Genetics, Fulgent Genetics
|
3
|
4
|
11
|
3
|
0 |
0 |
21
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
13
|
7
|
0 |
0 |
0 |
0 |
20
|
OMIM
|
15
|
0 |
0 |
0 |
0 |
0 |
15
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
4
|
3
|
6
|
0 |
0 |
0 |
13
|
Genetics and Molecular Pathology, SA Pathology
|
5
|
4
|
4
|
0 |
0 |
0 |
13
|
MGZ Medical Genetics Center
|
3
|
8
|
1
|
0 |
0 |
0 |
12
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
2
|
3
|
1
|
0 |
0 |
0 |
6
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
5
|
0 |
0 |
0 |
0 |
6
|
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine
|
2
|
0 |
3
|
0 |
0 |
0 |
5
|
Clinical Genomics Laboratory, Stanford Medicine
|
1
|
0 |
3
|
0 |
0 |
0 |
4
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
2
|
0 |
0 |
0 |
0 |
3
|
Department of Molecular Diagnostics, Institute of Oncology Ljubljana
|
1
|
2
|
0 |
0 |
0 |
0 |
3
|
UAB Medical Genomics Laboratory, UAB Medicine
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Labcorp Genetics (formerly Invitae), Labcorp
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Mendelics
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Molecular Genetics, Royal Melbourne Hospital
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Centogene AG - the Rare Disease Company
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Department of Traditional Chinese Medicine, Fujian Provincial Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
St. Jude Molecular Pathology, St. Jude Children's Research Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
DASA
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genomics England Pilot Project, Genomics England
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Eurofins-Biomnis
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Fernandez-Valle lab, University of Central Florida
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Immunology and Genetics Kaiserslautern
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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