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 |
|
71
|
81
|
615
|
1016
|
104
|
11
|
1774
|
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
|
70
|
81
|
611
|
1016
|
104
|
11
|
1769
|
|
ADAMTS2, GRM6, ZNF354C, ZNF879
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
ADAMTS2, ARL10, B4GALT7, 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, SPATA31J1, SQSTM1, THOC3, TMED9, TSPAN17, UIMC1, UNC5A, ZFP2, ZNF346, ZNF354A, ZNF354B, ZNF354C, ZNF454, ZNF879
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
ADAMTS2, CANX, CBY3, HNRNPH1, LTC4S, MAML1, MGAT4B, RUFY1, SPATA31J1, 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 |
|
Labcorp Genetics (formerly Invitae), Labcorp
|
65
|
15
|
398
|
981
|
66
|
0 |
1525
|
|
Natera, Inc.
|
1
|
23
|
229
|
67
|
42
|
0 |
362
|
|
Illumina Laboratory Services, Illumina
|
1
|
1
|
119
|
18
|
48
|
0 |
187
|
|
Fulgent Genetics, Fulgent Genetics
|
1
|
15
|
24
|
4
|
1
|
0 |
45
|
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
29
|
0 |
29
|
|
Myriad Genetics, Inc.
|
1
|
22
|
0 |
0 |
0 |
0 |
23
|
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
2
|
8
|
0 |
0 |
0 |
10
|
|
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
|
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
7
|
7
|
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
4
|
3
|
0 |
0 |
0 |
0 |
7
|
|
Counsyl
|
0 |
4
|
2
|
0 |
0 |
0 |
6
|
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
4
|
4
|
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
|
Mendelics
|
1
|
1
|
0 |
0 |
1
|
0 |
3
|
|
OMIM
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
|
Molecular Genetics, Royal Melbourne Hospital
|
0 |
0 |
1
|
0 |
1
|
0 |
2
|
|
Department of Genetics, Suzhou Beikang Medical Laboratory
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
MVZ Martinsried, Medicover Genetics
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
MVZ Medizinische Genetik Mainz
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Pars Genome Lab
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
The information on this website is not intended for direct
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. The submitted information has not been verified.
If you have questions about the information contained on this
website, please see a health care professional.