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 |
total |
|
33
|
11
|
2
|
0 |
0 |
46
|
Gene and significance breakdown #
Total genes and gene combinations: 26
Condition and significance breakdown #
| Condition |
pathogenic |
likely pathogenic |
uncertain significance |
total |
|
Cleidocranial dysostosis
|
5
|
0 |
0 |
5
|
|
Amelogenesis imperfecta type 1G
|
2
|
2
|
0 |
4
|
|
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
|
1
|
1
|
0 |
2
|
|
Amelogenesis imperfecta type 1H
|
1
|
1
|
0 |
2
|
|
Childhood hypophosphatasia
|
2
|
0 |
0 |
2
|
|
Childhood myocerebrohepatopathy spectrum
|
2
|
0 |
0 |
2
|
|
Congenital malabsorptive diarrhea 4
|
2
|
0 |
0 |
2
|
|
Dentinogenesis imperfecta type 2
|
2
|
0 |
0 |
2
|
|
Hypomyelinating leukodystrophy 10
|
0 |
2
|
0 |
2
|
|
Oligodontia-cancer predisposition syndrome
|
1
|
0 |
1
|
2
|
|
Osteogenesis imperfecta type 13
|
1
|
1
|
0 |
2
|
|
Osteogenesis imperfecta type 7
|
2
|
0 |
0 |
2
|
|
Osteogenesis imperfecta with normal sclerae, dominant form
|
1
|
1
|
0 |
2
|
|
Tooth agenesis, selective, 3
|
1
|
1
|
0 |
2
|
|
Achondroplasia
|
1
|
0 |
0 |
1
|
|
Brachyolmia-amelogenesis imperfecta syndrome
|
1
|
0 |
0 |
1
|
|
Craniofrontonasal syndrome
|
1
|
0 |
0 |
1
|
|
Geleophysic dysplasia 3
|
1
|
0 |
0 |
1
|
|
Glioma susceptibility 1
|
1
|
0 |
0 |
1
|
|
Hypochondroplasia
|
1
|
0 |
0 |
1
|
|
Jalili syndrome
|
1
|
0 |
0 |
1
|
|
Neutropenia, severe congenital, 1, autosomal dominant
|
1
|
0 |
0 |
1
|
|
Osteogenesis imperfecta type 6
|
1
|
0 |
0 |
1
|
|
Partial congenital absence of teeth
|
0 |
1
|
0 |
1
|
|
Tooth agenesis
|
0 |
1
|
0 |
1
|
|
Tooth agenesis, selective, 4
|
0 |
0 |
1
|
1
|
|
Tooth agenesis, selective, 7
|
1
|
0 |
0 |
1
|
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