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 |
pathogenic, low penetrance |
not provided |
total |
89
|
20
|
101
|
285
|
13
|
1
|
2
|
478
|
Gene and significance breakdown #
Total genes and gene combinations: 5
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
pathogenic, low penetrance |
not provided |
total |
WNT10A
|
88
|
20
|
86
|
279
|
13
|
1
|
2
|
456
|
LOC129935618, WNT10A
|
0 |
0 |
7
|
2
|
0 |
0 |
0 |
9
|
LOC129935619, WNT10A
|
0 |
0 |
6
|
1
|
0 |
0 |
0 |
7
|
LOC129935625, WNT10A
|
0 |
0 |
2
|
3
|
0 |
0 |
0 |
5
|
LOC129935620, LOC129935621, LOC129935622, LOC129935623, LOC129935624, LOC129935625, WNT10A
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
pathogenic, low penetrance |
not provided |
total |
Labcorp Genetics (formerly Invitae), Labcorp
|
80
|
9
|
50
|
273
|
12
|
1
|
0 |
425
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
51
|
13
|
6
|
0 |
0 |
70
|
Fulgent Genetics, Fulgent Genetics
|
2
|
4
|
5
|
2
|
0 |
0 |
0 |
13
|
OMIM
|
10
|
0 |
0 |
0 |
0 |
0 |
0 |
10
|
Department of Second Dental Center, Ninth People’s Hospital, Shanghai Jiao Tong University School of Medicine
|
2
|
3
|
1
|
0 |
0 |
0 |
0 |
6
|
Department of Prosthodontics, Peking University School and Hospital of Stomatology
|
5
|
0 |
0 |
0 |
0 |
0 |
0 |
5
|
Mendelics
|
1
|
0 |
1
|
1
|
0 |
0 |
0 |
3
|
Genome-Nilou Lab
|
0 |
1
|
1
|
1
|
0 |
0 |
0 |
3
|
MGZ Medical Genetics Center
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Division of Human Genetics, Children's Hospital of Philadelphia
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
2
|
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Clinical Genomics Laboratory, Washington University in St. Louis
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Johns Hopkins Genomics, Johns Hopkins University
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
New York Genome Center
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Molecular Genetics, Royal Melbourne Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
GenomeConnect - Brain Gene Registry
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Department of Human Genetics, Hannover Medical School
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Narges Medical Genetic and Prenatal Diagnosis Lab
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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Institutes of Health independently verfies the submitted
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