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 |
44
|
49
|
91
|
25
|
19
|
1
|
201
|
Gene and significance breakdown #
Total genes and gene combinations: 1
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
G6PC1
|
44
|
49
|
91
|
25
|
19
|
1
|
201
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Illumina Clinical Services Laboratory,Illumina
|
4
|
1
|
70
|
6
|
13
|
0 |
94
|
Invitae
|
32
|
7
|
10
|
16
|
6
|
0 |
71
|
Counsyl
|
1
|
29
|
12
|
4
|
0 |
0 |
46
|
Integrated Genetics/Laboratory Corporation of America
|
16
|
3
|
0 |
0 |
0 |
0 |
19
|
Baylor Genetics
|
14
|
4
|
0 |
0 |
0 |
0 |
18
|
OMIM
|
14
|
0 |
0 |
0 |
0 |
0 |
14
|
GeneReviews
|
7
|
0 |
0 |
0 |
0 |
0 |
7
|
Myriad Women's Health, Inc.
|
6
|
1
|
0 |
0 |
0 |
0 |
7
|
Mendelics
|
3
|
3
|
0 |
0 |
0 |
0 |
6
|
National Center for Biotechnology Information, National Institutes of Health
|
4
|
0 |
0 |
0 |
0 |
0 |
4
|
Fulgent Genetics,Fulgent Genetics
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Centogene AG - the Rare Disease Company
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Centre for Mendelian Genomics,University Medical Centre Ljubljana
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Institute of Human Genetics, University of Leipzig Medical Center
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Kids Research, The Children's Hospital at Westmead
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Genome Diagnostics Laboratory,University Medical Center Utrecht
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Pathology and Clinical Laboratory Medicine,King Fahad Medical City
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Reproductive Health Research and Development,BGI Genomics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Laboratory of Molecular Genetics MedGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
UOSD Laboratory of Genetics & Genomics of Rare Diseases,Istituto Giannina Gaslini
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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