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 |
51
|
25
|
505
|
360
|
68
|
1
|
986
|
Gene and significance breakdown #
Total genes and gene combinations: 10
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
GFPT1
|
30
|
11
|
235
|
153
|
49
|
0 |
465
|
ALG2
|
3
|
2
|
159
|
108
|
12
|
0 |
280
|
DPAGT1
|
12
|
9
|
86
|
71
|
6
|
0 |
180
|
DPAGT1, LOC126861360
|
5
|
2
|
22
|
27
|
0 |
0 |
54
|
DPAGT1, HMBS
|
0 |
0 |
0 |
1
|
1
|
1
|
2
|
ABCG4, C2CD2L, CBL, CCDC153, DPAGT1, HINFP, NHERF4, NLRX1
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
ABCG4, C2CD2L, CBL, CCDC153, DPAGT1, HINFP, NLRX1, PDZD3
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
ALG2, ANKS6, ANP32B, COL15A1, CORO2A, ERP44, FOXE1, GABBR2, GALNT12, HEMGN, INVS, NANS, NCBP1, NR4A3, SEC61B, STX17, TBC1D2, TDRD7, TGFBR1, TMOD1, TRIM14, TRMO, TSTD2, XPA
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
FAT1
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
RYR1
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
35
|
11
|
380
|
345
|
41
|
0 |
812
|
Illumina Laboratory Services, Illumina
|
0 |
1
|
118
|
12
|
30
|
0 |
161
|
OMIM
|
15
|
0 |
0 |
0 |
0 |
0 |
15
|
Fulgent Genetics, Fulgent Genetics
|
1
|
0 |
6
|
4
|
1
|
0 |
12
|
3billion
|
2
|
3
|
1
|
0 |
0 |
0 |
6
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
4
|
0 |
4
|
Baylor Genetics
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Revvity Omics, Revvity
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
MGZ Medical Genetics Center
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Duke University Health System Sequencing Clinic, Duke University Health System
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Genetic Diseases Diagnostic Center, Koc University Hospital
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Institute of Human Genetics, University of Goettingen
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Hadassah Hebrew University Medical Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
New York Genome Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Pars Genome Lab
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Payam Genetics Center, General Welfare Department of North Khorasan Province
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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health behavior solely on the basis of information contained on
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Institutes of Health independently verfies the submitted
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contained on this website, please see a health care
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