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
|
52
|
151
|
559
|
28
|
8
|
787
|
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 |
MCOLN1
|
67
|
50
|
145
|
543
|
25
|
8
|
761
|
LOC130063376, MCOLN1
|
3
|
2
|
4
|
9
|
1
|
0 |
16
|
MCOLN1, PNPLA6
|
0 |
0 |
1
|
7
|
2
|
0 |
8
|
ADAMTS10, ANGPTL4, CAMSAP3, CCL25, CD209, CD320, CERS4, CLEC4G, CLEC4M, CTXN1, ELAVL1, EVI5L, FBN3, FCER2, HNRNPM, KANK3, LRRC8E, MAP2K7, MARCHF2, MCEMP1, MCOLN1, MYO1F, NDUFA7, PCP2, PET100, PNPLA6, PRAM1, RAB11B, RETN, RPS28, SNAPC2, STXBP2, TGFBR3L, TIMM44, TRAPPC5, XAB2, ZNF414
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
ADGRE1, ALKBH7, ARHGEF18, C3, CAMSAP3, CCL25, CD209, CD70, CLEC4G, CLEC4M, CLPP, CRB3, CTXN1, DENND1C, ELAVL1, EVI5L, FBN3, FCER2, GPR108, GTF2F1, INSR, KHSRP, LRRC8E, MAP2K7, MBD3L2, MBD3L3, MBD3L4, MBD3L5, MCEMP1, MCOLN1, PCP2, PET100, PEX11G, PNPLA6, PSPN, RETN, SAXO5, SH2D3A, SLC25A23, SLC25A41, SNAPC2, STXBP2, TGFBR3L, TIMM44, TNFSF14, TNFSF9, TRAPPC5, TRIP10, TUBB4A, VAV1, XAB2, ZNF358, ZNF557
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
59
|
13
|
72
|
541
|
18
|
0 |
703
|
Natera, Inc.
|
9
|
7
|
19
|
45
|
10
|
0 |
90
|
Illumina Laboratory Services, Illumina
|
1
|
1
|
55
|
8
|
5
|
0 |
70
|
Counsyl
|
1
|
20
|
6
|
1
|
0 |
0 |
28
|
Genome-Nilou Lab
|
0 |
0 |
6
|
6
|
8
|
0 |
20
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
10
|
3
|
0 |
0 |
0 |
0 |
13
|
Myriad Genetics, Inc.
|
1
|
11
|
0 |
0 |
0 |
0 |
12
|
OMIM
|
10
|
0 |
0 |
0 |
0 |
0 |
10
|
Baylor Genetics
|
4
|
5
|
1
|
0 |
0 |
0 |
10
|
GeneReviews
|
2
|
0 |
0 |
0 |
0 |
8
|
10
|
Fulgent Genetics, Fulgent Genetics
|
4
|
1
|
0 |
1
|
0 |
0 |
6
|
Revvity Omics, Revvity
|
1
|
1
|
1
|
0 |
0 |
0 |
3
|
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Centogene AG - the Rare Disease Company
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence,
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Department of Biochemistry, Faculty of Medicine, University of Khartoum
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Section for Clinical Neurogenetics, University of Tübingen
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Pars Genome Lab
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Suma Genomics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
MVZ Medizinische Genetik Mainz
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Pediatric Genetics, Postgraduate Institute of Medical Education and Research, Chandigarh (PGIMER)
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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