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 |
|
86
|
77
|
676
|
614
|
49
|
2
|
1448
|
Gene and significance breakdown #
Total genes and gene combinations: 3
| Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
CEP164
|
85
|
77
|
675
|
614
|
49
|
2
|
1446
|
|
APOA1, APOA4, APOA5, APOC3, BACE1, CEP164, DSCAML1, FXYD2, FXYD6, FXYD6-FXYD2, IL10RA, PAFAH1B2, PCSK7, RNF214, SIDT2, SIK3, TAGLN, TMPRSS13
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
CEP164, DSCAML1
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
Labcorp Genetics (formerly Invitae), Labcorp
|
81
|
33
|
579
|
602
|
48
|
0 |
1343
|
|
Fulgent Genetics, Fulgent Genetics
|
2
|
41
|
251
|
57
|
1
|
0 |
352
|
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
8
|
0 |
8
|
|
OMIM
|
5
|
0 |
0 |
0 |
0 |
0 |
5
|
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
1
|
0 |
3
|
0 |
0 |
0 |
4
|
|
Revvity Omics, Revvity
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
|
Variantyx, Inc.
|
1
|
3
|
0 |
0 |
0 |
0 |
4
|
|
Baylor Genetics
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
2
|
1
|
0 |
0 |
0 |
3
|
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
1
|
2
|
0 |
0 |
0 |
0 |
3
|
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
1
|
1
|
0 |
0 |
2
|
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
|
Johns Hopkins Genomics, Johns Hopkins University
|
0 |
0 |
1
|
1
|
0 |
0 |
2
|
|
3billion
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Dubai Health Genomic Medicine Center, Dubai Health
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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