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 |
|
37
|
14
|
209
|
64
|
36
|
1
|
322
|
Condition and significance breakdown #
| Condition |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
not provided
|
18
|
6
|
121
|
0 |
5
|
0 |
150
|
|
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2; Limb-girdle muscular dystrophy-dystroglycanopathy, type C2
|
5
|
3
|
53
|
11
|
14
|
1
|
87
|
|
Limb-Girdle Muscular Dystrophy, Recessive
|
0 |
0 |
54
|
12
|
7
|
0 |
73
|
|
not specified
|
0 |
0 |
12
|
46
|
24
|
0 |
70
|
|
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2
|
12
|
1
|
1
|
0 |
0 |
0 |
14
|
|
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2
|
8
|
1
|
2
|
0 |
0 |
0 |
10
|
|
Limb-girdle muscular dystrophy-dystroglycanopathy, type C2
|
4
|
4
|
2
|
0 |
0 |
0 |
10
|
|
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1; Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2; Limb-girdle muscular dystrophy-dystroglycanopathy, type C2
|
1
|
0 |
3
|
0 |
0 |
0 |
4
|
|
Muscular dystrophy
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
|
Abnormality of brain morphology
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Congenital muscular dystrophy
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics
|
15
|
1
|
113
|
3
|
13
|
0 |
145
|
|
Invitae
|
5
|
3
|
53
|
11
|
14
|
0 |
86
|
|
Illumina Clinical Services Laboratory,Illumina
|
0 |
0 |
55
|
12
|
7
|
0 |
74
|
|
GeneDx
|
7
|
3
|
14
|
34
|
10
|
0 |
68
|
|
PreventionGenetics
|
0 |
0 |
0 |
11
|
12
|
0 |
23
|
|
Athena Diagnostics Inc
|
0 |
1
|
11
|
2
|
7
|
0 |
21
|
|
OMIM
|
17
|
0 |
0 |
0 |
0 |
0 |
17
|
|
Genetic Services Laboratory, University of Chicago
|
3
|
3
|
6
|
4
|
1
|
0 |
17
|
|
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine
|
0 |
0 |
0 |
0 |
4
|
0 |
4
|
|
Fulgent Genetics
|
1
|
0 |
3
|
0 |
0 |
0 |
4
|
|
Center for Genetic Medicine Research,Children's National Medical Center
|
0 |
2
|
1
|
0 |
0 |
0 |
3
|
|
CeGaT Praxis fuer Humangenetik Tuebingen
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
|
SIB Swiss Institute of Bioinformatics
|
0 |
1
|
0 |
0 |
1
|
0 |
2
|
|
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Genomic Research Center,Shahid Beheshti University of Medical Sciences
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
|
Broad Institute Rare Disease Group,Broad Institute
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
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diagnostic use or medical decision-making without review by a
genetics professional. Individuals should not change their
health behavior solely on the basis of information contained on
this website. Neither the University of Utah nor the National
Institutes of Health independently verfies the submitted
information. If you have questions about the information
contained on this website, please see a health care
professional.