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 |
|
27
|
6
|
47
|
33
|
30
|
136
|
Gene and significance breakdown #
Total genes and gene combinations: 9
| Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
|
MASP1
|
9
|
5
|
36
|
33
|
28
|
104
|
|
COLEC11
|
8
|
0 |
6
|
0 |
0 |
14
|
|
LOC108281160, MASP1
|
0 |
0 |
3
|
0 |
1
|
4
|
|
SLC26A2
|
3
|
1
|
0 |
0 |
0 |
4
|
|
ADIPOQ, AHSG, CRYGS, DNAJB11, EIF4A2, FETUB, HRG, KNG1, MASP1, RFC4, RPL39L, RTP1, SNORA63, SNORA81, ST6GAL1, TBCCD1
|
2
|
0 |
1
|
0 |
0 |
3
|
|
COLEC10
|
2
|
0 |
1
|
0 |
0 |
3
|
|
COLEC10, LOC101927513, LOC126860480
|
2
|
0 |
0 |
0 |
0 |
2
|
|
CHD7
|
1
|
0 |
0 |
0 |
0 |
1
|
|
LOC101929130, MASP1
|
0 |
0 |
0 |
0 |
1
|
1
|
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
|
Labcorp Genetics (formerly Invitae), Labcorp
|
4
|
0 |
24
|
28
|
27
|
83
|
|
OMIM
|
14
|
0 |
0 |
0 |
0 |
14
|
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
0 |
2
|
4
|
6
|
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
6
|
0 |
0 |
6
|
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
0 |
1
|
4
|
0 |
0 |
5
|
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
2
|
2
|
0 |
4
|
|
Myriad Genetics, Inc.
|
3
|
1
|
0 |
0 |
0 |
4
|
|
Baylor Genetics
|
0 |
0 |
3
|
0 |
0 |
3
|
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
3
|
0 |
0 |
0 |
3
|
|
Revvity Omics, Revvity
|
0 |
0 |
2
|
0 |
0 |
2
|
|
Centogene AG - the Rare Disease Company
|
0 |
1
|
1
|
0 |
0 |
2
|
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
1
|
1
|
0 |
0 |
0 |
2
|
|
Autoinflammatory diseases unit, CHU de Montpellier
|
2
|
0 |
0 |
0 |
0 |
2
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
0 |
2
|
0 |
0 |
2
|
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Medical Genetics Laboratory, Tarbiat Modares University
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
1
|
1
|
|
3billion
|
0 |
0 |
0 |
1
|
0 |
1
|
|
Molecular Genetics, Royal Melbourne Hospital
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Molecular Biology Laboratory, Department of Zoology, Quaid-i-azam University
|
0 |
0 |
1
|
0 |
0 |
1
|
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health behavior solely on the basis of information contained on
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