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 |
|
12
|
9
|
82
|
103
|
18
|
216
|
Gene and significance breakdown #
Total genes and gene combinations: 3
| Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
|
DLAT
|
11
|
7
|
65
|
90
|
15
|
182
|
|
DLAT, PIH1D2
|
1
|
2
|
16
|
13
|
3
|
33
|
|
ALG9, BCO2, BTG4, C11orf52, CFAP68, CRYAB, DIXDC1, DLAT, FDXACB1, HOATZ, HSPB2, IL18, LAYN, MIR34B, MIR34BHG, MIR34C, NKAPD1, PIH1D2, POU2AF1, POU2AF3, PPP2R1B, PTS, SDHD, SIK2, TEX12, TIMM8B
|
0 |
0 |
1
|
0 |
0 |
1
|
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
|
Labcorp Genetics (formerly Invitae), Labcorp
|
7
|
3
|
73
|
101
|
17
|
201
|
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
5
|
5
|
|
Revvity Omics, Revvity
|
0 |
1
|
3
|
0 |
0 |
4
|
|
Baylor Genetics
|
0 |
0 |
3
|
0 |
0 |
3
|
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
2
|
1
|
3
|
|
OMIM
|
3
|
0 |
0 |
0 |
0 |
3
|
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
0 |
0 |
2
|
2
|
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
1
|
0 |
1
|
0 |
0 |
2
|
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
2
|
0 |
2
|
|
Fulgent Genetics, Fulgent Genetics
|
0 |
2
|
0 |
0 |
0 |
2
|
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
1
|
1
|
1
|
0 |
0 |
2
|
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
2
|
0 |
0 |
2
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
1
|
1
|
0 |
0 |
2
|
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
2
|
0 |
0 |
0 |
0 |
2
|
|
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Genetic Services Laboratory, University of Chicago
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
1
|
0 |
1
|
|
Undiagnosed Diseases Network, NIH
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
0 |
1
|
0 |
0 |
1
|
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