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 |
total |
8
|
0 |
747
|
466
|
69
|
1224
|
Gene and significance breakdown #
Total genes and gene combinations: 3
Gene or gene combination |
pathogenic |
uncertain significance |
likely benign |
benign |
total |
TRPM4
|
6
|
744
|
464
|
69
|
1221
|
HRC, TRPM4
|
2
|
2
|
2
|
0 |
2
|
C19orf73, CGB1, CGB2, CGB3, CGB5, CGB7, CGB8, GYS1, HRC, KCNA7, LHB, LIN7B, NTF4, PPFIA3, RUVBL2, SNRNP70, TRPM4
|
0 |
1
|
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
uncertain significance |
likely benign |
benign |
total |
Invitae
|
3
|
672
|
447
|
65
|
1187
|
Illumina Laboratory Services, Illumina
|
0 |
87
|
17
|
8
|
112
|
OMIM
|
6
|
0 |
0 |
0 |
6
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
3
|
3
|
0 |
6
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
3
|
0 |
0 |
3
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
2
|
1
|
0 |
3
|
Genome-Nilou Lab
|
0 |
0 |
0 |
3
|
3
|
Division of Human Genetics, Children's Hospital of Philadelphia
|
0 |
2
|
0 |
0 |
2
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
2
|
0 |
0 |
2
|
Institute of Human Genetics, University of Goettingen
|
0 |
1
|
0 |
0 |
1
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
1
|
0 |
1
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
1
|
0 |
0 |
1
|
Fulgent Genetics, Fulgent Genetics
|
0 |
1
|
0 |
0 |
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
1
|
0 |
0 |
1
|
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
|
0 |
1
|
0 |
0 |
1
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
1
|
0 |
0 |
1
|
Medizinische Genetik Mainz, Limbach Genetics GmbH
|
0 |
1
|
0 |
0 |
1
|
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