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 |
20
|
43
|
609
|
274
|
258
|
1
|
1204
|
Gene and significance breakdown #
Total genes and gene combinations: 34
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
ZNF469
|
0 |
3
|
123
|
55
|
34
|
0 |
215
|
TNXB
|
0 |
7
|
107
|
31
|
48
|
0 |
193
|
FBN2
|
0 |
1
|
34
|
31
|
36
|
0 |
102
|
COL5A1
|
6
|
6
|
35
|
34
|
18
|
0 |
99
|
COL1A1
|
2
|
0 |
37
|
24
|
16
|
0 |
79
|
ADAMTS2
|
0 |
0 |
47
|
12
|
14
|
0 |
73
|
COL3A1
|
1
|
8
|
26
|
10
|
13
|
0 |
57
|
COL5A2
|
0 |
1
|
27
|
12
|
16
|
0 |
56
|
COL1A2
|
3
|
9
|
26
|
6
|
6
|
0 |
50
|
PLOD1
|
2
|
2
|
18
|
4
|
10
|
0 |
36
|
PRDM5
|
1
|
0 |
20
|
4
|
5
|
0 |
30
|
COL5A1, LOC101448202
|
1
|
2
|
8
|
9
|
6
|
1
|
27
|
ATP7A
|
0 |
0 |
11
|
11
|
4
|
0 |
26
|
SMAD3
|
1
|
1
|
11
|
3
|
2
|
0 |
18
|
TGFBR1
|
0 |
0 |
11
|
1
|
6
|
0 |
18
|
TGFBR2
|
0 |
1
|
5
|
5
|
6
|
0 |
17
|
DSE
|
0 |
0 |
9
|
2
|
5
|
0 |
16
|
LOC106780803, TNXB
|
0 |
1
|
9
|
3
|
3
|
0 |
16
|
TGFB2
|
1
|
0 |
3
|
8
|
3
|
0 |
15
|
SLC39A13
|
0 |
0 |
10
|
2
|
2
|
0 |
14
|
B4GALT7
|
0 |
0 |
12
|
0 |
1
|
0 |
13
|
CHST14
|
0 |
0 |
5
|
2
|
0 |
0 |
7
|
FKBP14
|
0 |
0 |
3
|
3
|
1
|
0 |
7
|
FBN2, LOC126807501
|
0 |
0 |
2
|
2
|
2
|
0 |
6
|
COL1A1, LOC126862586
|
0 |
0 |
4
|
0 |
1
|
0 |
5
|
B4GALT7, LOC129995400
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
C1R
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
CYP21A2, LOC106780803, TNXB
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
ERCC6
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
FLNA
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
LOC126859908, THBS2
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
LOC130002223, TGFBR1
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
LOC130057352, SMAD3
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
LOC130059719, ZNF469
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Genome Diagnostics Laboratory, The Hospital for Sick Children
|
14
|
32
|
607
|
274
|
257
|
0 |
1184
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
5
|
6
|
0 |
0 |
0 |
0 |
11
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
1
|
2
|
0 |
0 |
0 |
0 |
3
|
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Department of Periodontology, Nanjing Stomatological Hospital, Medical School of Nanjing University
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
The Morris Kahn Laboratory of Human Genetics, Ben-Gurion University of the Negev
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
University of Washington Department of Laboratory Medicine, University of Washington
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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