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 |
56
|
42
|
515
|
941
|
103
|
7
|
1564
|
Gene and significance breakdown #
Total genes and gene combinations: 5
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
ADAMTS2
|
55
|
42
|
511
|
941
|
103
|
7
|
1559
|
ADAMTS2, GRM6, ZNF354C, ZNF879
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
ADAMTS2, ARL10, B4GALT7, C5orf60, CANX, CBY3, CDHR2, CLK4, CLTB, COL23A1, CPLX2, DBN1, DDX41, DOK3, EIF4E1B, F12, FAF2, FAM153A, FAM153B, FAM193B, FGFR4, GPRIN1, GRK6, GRM6, HIGD2A, HK3, HNRNPAB, HNRNPH1, KIAA1191, LMAN2, LTC4S, MAML1, MGAT4B, MXD3, N4BP3, NHP2, NOP16, NSD1, PDLIM7, PFN3, PHYKPL, PRELID1, PROP1, PRR7, RAB24, RGS14, RMND5B, RNF44, RUFY1, SIMC1, SLC34A1, SNCB, SQSTM1, THOC3, TMED9, TSPAN17, UIMC1, UNC5A, ZFP2, ZNF346, ZNF354A, ZNF354B, ZNF354C, ZNF454, ZNF879
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
ADAMTS2, C5orf60, CANX, CBY3, HNRNPH1, LTC4S, MAML1, MGAT4B, RUFY1, SQSTM1
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
ADAMTS2, LOC112997581
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
53
|
12
|
373
|
907
|
65
|
0 |
1410
|
Natera, Inc.
|
1
|
3
|
143
|
63
|
42
|
0 |
252
|
Illumina Laboratory Services, Illumina
|
1
|
1
|
127
|
19
|
49
|
0 |
197
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
29
|
0 |
29
|
Fulgent Genetics, Fulgent Genetics
|
0 |
1
|
17
|
4
|
1
|
0 |
23
|
Myriad Genetics, Inc.
|
1
|
21
|
0 |
0 |
0 |
0 |
22
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
0 |
10
|
0 |
10
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
0 |
0 |
0 |
0 |
10
|
0 |
10
|
Revvity Omics, Revvity
|
1
|
1
|
6
|
0 |
0 |
0 |
8
|
Baylor Genetics
|
0 |
0 |
7
|
0 |
0 |
0 |
7
|
Counsyl
|
0 |
4
|
2
|
0 |
0 |
0 |
6
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
5
|
5
|
OMIM
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
1
|
2
|
0 |
0 |
0 |
0 |
3
|
Mendelics
|
1
|
1
|
0 |
0 |
1
|
0 |
3
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Pars Genome Lab
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Molecular Genetics, Royal Melbourne Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
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