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 |
113
|
90
|
387
|
374
|
21
|
3
|
920
|
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 |
SLC37A4
|
113
|
90
|
385
|
374
|
21
|
3
|
918
|
ARCN1, ATP5MG, BCL9L, CD3D, CD3E, CD3G, CENATAC, CXCR5, DDX6, DPAGT1, FOXR1, H2AX, HMBS, HYOU1, IFT46, IL10RA, JAML, KMT2A, MPZL2, MPZL3, PHLDB1, RPS25, SCN2B, SCN4B, SLC37A4, TMEM25, TMPRSS4, TRAPPC4, TREH, TTC36, UBE4A, UPK2, VPS11
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
DPAGT1, H2AX, HMBS, HYOU1, SLC37A4, VPS11
|
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
|
92
|
18
|
213
|
291
|
21
|
0 |
635
|
Counsyl
|
0 |
27
|
187
|
130
|
0 |
0 |
344
|
Natera, Inc.
|
11
|
1
|
58
|
7
|
8
|
0 |
85
|
Baylor Genetics
|
38
|
40
|
2
|
0 |
0 |
0 |
80
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
20
|
10
|
0 |
0 |
0 |
0 |
30
|
OMIM
|
13
|
0 |
0 |
0 |
0 |
0 |
13
|
Genome-Nilou Lab
|
0 |
0 |
4
|
1
|
6
|
0 |
11
|
Neuberg Centre For Genomic Medicine, NCGM
|
1
|
2
|
3
|
0 |
0 |
0 |
6
|
Centre for Human Genetics
|
2
|
1
|
2
|
0 |
0 |
0 |
5
|
Myriad Genetics, Inc.
|
2
|
2
|
0 |
0 |
0 |
0 |
4
|
Centogene AG - the Rare Disease Company
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
Mendelics
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
3
|
3
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
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
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Laboratory of Functional Genomics, Research Centre for Medical Genetics
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
3billion
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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