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 |
327
|
402
|
657
|
742
|
40
|
2
|
1807
|
Gene and significance breakdown #
Total genes and gene combinations: 8
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
ACADVL
|
309
|
380
|
597
|
686
|
32
|
2
|
1661
|
ACADVL, LOC130060113
|
11
|
11
|
25
|
42
|
4
|
0 |
79
|
ACADVL, DLG4
|
3
|
7
|
31
|
14
|
4
|
0 |
57
|
ACADVL, DVL2
|
2
|
4
|
0 |
0 |
0 |
0 |
4
|
ACADL
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
ACADVL, ACAP1, AIPL1, ALOX12, ASGR1, ASGR2, ATP1B2, BCL6B, C17orf100, C17orf49, CD68, CHRNB1, CLDN7, CLEC10A, CTDNEP1, DLG4, DVL2, EIF4A1, EIF5A, ELP5, FBXO39, FGF11, FXR2, GABARAP, GPS2, KCTD11, KIAA0753, MED31, MIR195, MIR497HG, MPDU1, NEURL4, NLGN2, PHF23, PIMREG, PITPNM3, PLSCR3, POLR2A, RNASEK, SAT2, SENP3, SHBG, SLC13A5, SLC16A11, SLC16A13, SLC2A4, SLC35G6, SOX15, SPEM1, SPEM2, TEKT1, TMEM102, TMEM256, TMEM95, TNFSF12, TNFSF12-TNFSF13, TNFSF13, TNK1, TP53, TXNDC17, WRAP53, XAF1, YBX2, ZBTB4
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
ACADVL, ACAP1, ALOX12B, ALOX15B, ALOXE3, ATP1B2, AURKB, BORCS6, CD68, CHD3, CHRNB1, CLDN7, CNTROB, CTC1, CTDNEP1, CYB5D1, DLG4, DNAH2, DVL2, EFNB3, EIF4A1, EIF5A, ELP5, FGF11, FXR2, GABARAP, GPS2, GUCY2D, HES7, KCNAB3, KCTD11, KDM6B, MPDU1, NAA38, NEURL4, NLGN2, PER1, PFAS, PHF23, PLSCR3, POLR2A, RANGRF, SAT2, SENP3, SHBG, SLC25A35, SLC2A4, SLC35G6, SOX15, SPEM1, SPEM2, TMEM102, TMEM107, TMEM256, TMEM88, TMEM95, TNFSF12, TNFSF12-TNFSF13, TNFSF13, TNK1, TP53, TRAPPC1, TRG-GCC2-6, TRK-TTT3-5, TRL-TAG1-1, TRQ-CTG1-5, TRR-TCT2-1, VAMP2, WRAP53, YBX2, ZBTB4
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
ACADVL, ALOX12, ASGR1, ASGR2, BCL6B, C17orf49, CLEC10A, DLG4, FBXO39, MIR195, MIR497HG, RNASEK, SLC13A5, SLC16A11, SLC16A13, TEKT1, XAF1
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
273
|
150
|
368
|
688
|
30
|
0 |
1509
|
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine
|
113
|
22
|
200
|
2
|
15
|
0 |
352
|
ClinGen ACADVL Variant Curation Expert Panel, ClinGen
|
36
|
109
|
46
|
9
|
14
|
0 |
214
|
Counsyl
|
2
|
72
|
62
|
46
|
1
|
0 |
183
|
Baylor Genetics
|
70
|
100
|
3
|
1
|
0 |
0 |
174
|
Natera, Inc.
|
31
|
11
|
77
|
15
|
11
|
0 |
145
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
30
|
15
|
44
|
13
|
12
|
0 |
114
|
Illumina Laboratory Services, Illumina
|
4
|
2
|
57
|
3
|
9
|
0 |
75
|
Revvity Omics, Revvity
|
17
|
14
|
23
|
0 |
0 |
0 |
54
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
30
|
19
|
0 |
0 |
0 |
0 |
49
|
Myriad Genetics, Inc.
|
3
|
18
|
10
|
0 |
0 |
0 |
31
|
Fulgent Genetics, Fulgent Genetics
|
11
|
2
|
12
|
3
|
2
|
0 |
30
|
Genome-Nilou Lab
|
2
|
2
|
12
|
1
|
4
|
0 |
21
|
OMIM
|
12
|
0 |
0 |
0 |
0 |
0 |
12
|
Mendelics
|
5
|
2
|
2
|
0 |
1
|
0 |
10
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
3
|
1
|
1
|
0 |
0 |
0 |
5
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
1
|
3
|
1
|
0 |
0 |
0 |
5
|
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences
|
2
|
3
|
0 |
0 |
0 |
0 |
5
|
Genetics and Molecular Pathology, SA Pathology
|
1
|
3
|
0 |
0 |
0 |
0 |
4
|
Neonatal Disease Screening Center, Medical Genetics Center, Huaihua City Maternal and Child Health Care Hospital
|
2
|
0 |
1
|
0 |
0 |
0 |
3
|
Centre for Inherited Metabolic Diseases, Karolinska University Hospital
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Molecular Genetics Lab, CHRU Brest
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
3billion
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Suma Genomics
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genetic Services Laboratory, University of Chicago
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Goettingen
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
MGZ Medical Genetics Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Centogene AG - the Rare Disease Company
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Strand Center for Genomics and Personalized Medicine, Strand Life Sciences Pvt Ltd
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Division of Human Genetics, Children's Hospital of Philadelphia
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Medical Genetics UMG, Mater Domini University Hospital/ Magna Graecia University of Catanzaro
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Phosphorus, Inc.
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Clinical Genetics Laboratory, Region Ostergotland
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
SIB Swiss Institute of Bioinformatics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Pathology and Clinical Laboratory Medicine, King Fahad Medical City
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
NxGen MDx
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Clinical Genomics Program, Stanford Medicine
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute of Human Genetics, University Hospital Muenster
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
New York Genome Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Pars Genome Lab
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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