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 |
30
|
13
|
15
|
1
|
4
|
3
|
64
|
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 |
PLP1, RAB9B
|
27
|
12
|
13
|
1
|
4
|
3
|
59
|
GJC2
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
BEX2, BEX3, MORF4L2, PLP1, RAB40A, RAB9B, TCEAL1, TCEAL3, TCEAL4, TCEAL5, TCEAL7, TCEAL8, TCEAL9, TMEM31
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
ESX1, FAM199X, H2BW1, H2BW2, IL1RAPL2, LINC02589, LL0XNC01-250H12.3, LOC113845781, LOC126863296, LOC126863297, LOC130068509, LOC130068510, LOC130068511, LOC130068512, LOC130068513, LOC130068514, LOC130068515, LOC130068516, LOC130068517, LOC286437, MORF4L2, PLP1, RAB40A, RAB9B, SLC25A53, TCEAL1, TCEAL3, TCEAL4, TMEM31, TMSB15B, TMSB15C, ZCCHC18
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
ESX1, FAM199X, H2BW1, H2BW2, IL1RAPL2, LOC126863297, LOC130068514, LOC130068515, LOC130068516, LOC130068517, LOC286437, PLP1, RAB9B, SLC25A53, TMSB15B, TMSB15C, ZCCHC18
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
H2BW1, H2BW2, LOC126863297, LOC130068514, PLP1, RAB9B, TMSB15B
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
OMIM
|
16
|
0 |
0 |
0 |
0 |
0 |
16
|
Baylor Genetics
|
4
|
0 |
4
|
0 |
0 |
0 |
8
|
Mendelics
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
3
|
3
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
1
|
1
|
1
|
0 |
0 |
0 |
3
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
0 |
1
|
1
|
0 |
2
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
2
|
0 |
2
|
3billion
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Center for Human Genetics, Inc, Center for Human Genetics, Inc
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Illumina Laboratory Services, Illumina
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Center of Genomic medicine, Geneva, University Hospital of Geneva
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Shanghai First Maternity and Infant Hospital, Tongji University
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Ege University Pediatric Genetics, Ege University
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
TIDEX, University of British Columbia
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Biochemistry Laboratory of CDMU, Chengde Medical University
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Suma Genomics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Optical Genome Mapping Laboratory, Clinical Institute of Genomic Medicine, University Medical Center Ljubljana
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Medizinische Genetik Mainz, Limbach Genetics GmbH
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
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