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 |
164
|
193
|
455
|
888
|
54
|
5
|
1600
|
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 |
MAN2B1
|
147
|
176
|
402
|
821
|
53
|
5
|
1458
|
LOC130063650, MAN2B1
|
5
|
3
|
26
|
23
|
0 |
0 |
52
|
LOC129391064, MAN2B1
|
7
|
9
|
14
|
27
|
1
|
0 |
51
|
LOC130063648, MAN2B1
|
2
|
4
|
12
|
17
|
0 |
0 |
34
|
MAN2B1, WDR83, WDR83OS
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
ACP5, ANGPTL8, BEST2, C19orf38, CACNA1A, CALR, CARM1, CCDC159, CNN1, DAND5, DHPS, DNASE2, DNM2, DOCK6, ECSIT, ELAVL3, ELOF1, EPOR, FARSA, FBXW9, GADD45GIP1, GCDH, GET3, HOOK2, IER2, JUNB, KANK2, KLF1, LDLR, LYL1, MAN2B1, MAST1, MIR199A1, NACC1, NFIX, ODAD3, PRDX2, PRKCSH, RAB3D, RAD23A, RGL3, RNASEH2A, RTBDN, SMARCA4, SPC24, STX10, SWSAP1, SYCE2, TIMM29, TMED1, TMEM205, TNPO2, TRIR, TRMT1, TSPAN16, WDR83, WDR83OS, YIPF2, ZNF136, ZNF20, ZNF433, ZNF439, ZNF44, ZNF440, ZNF441, ZNF442, ZNF443, ZNF490, ZNF491, ZNF563, ZNF564, ZNF625, ZNF627, ZNF653, ZNF69, ZNF700, ZNF709, ZNF763, ZNF791, ZNF799, ZNF823, ZNF844, ZNF878
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
LOC130063648, LOC130063649, MAN2B1
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
MAN2B1, ZNF564
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
140
|
49
|
314
|
874
|
41
|
0 |
1418
|
Genome-Nilou Lab
|
55
|
10
|
17
|
30
|
11
|
0 |
123
|
Natera, Inc.
|
17
|
2
|
54
|
19
|
25
|
0 |
117
|
Illumina Laboratory Services, Illumina
|
2
|
1
|
81
|
7
|
18
|
0 |
109
|
Baylor Genetics
|
28
|
54
|
4
|
0 |
0 |
0 |
86
|
Counsyl
|
4
|
48
|
18
|
2
|
0 |
0 |
72
|
Myriad Genetics, Inc.
|
2
|
51
|
0 |
0 |
0 |
0 |
53
|
ClinVar Staff, National Center for Biotechnology Information (NCBI)
|
0 |
0 |
41
|
0 |
0 |
0 |
41
|
Fulgent Genetics, Fulgent Genetics
|
3
|
4
|
15
|
3
|
4
|
0 |
29
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
18
|
7
|
0 |
0 |
0 |
0 |
25
|
Revvity Omics, Revvity
|
8
|
1
|
7
|
0 |
0 |
0 |
16
|
OMIM
|
7
|
0 |
0 |
0 |
0 |
0 |
7
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
5
|
5
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
2
|
2
|
0 |
0 |
0 |
0 |
4
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
MGZ Medical Genetics Center
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
0 |
3
|
0 |
3
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Centogene AG - the Rare Disease Company
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Molecular Genetics Lab, CHRU Brest
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
3billion
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Molecular Genetics, Royal Melbourne Hospital
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Department of Medical Genetics, Oslo University Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Sharon lab, Hadassah-Hebrew University Medical Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
SingHealth Duke-NUS Institute of Precision Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
NxGen MDx
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
New York Genome Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Suma Genomics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
DASA
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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