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 |
236
|
80
|
71
|
176
|
22
|
11
|
514
|
Gene and significance breakdown #
Total genes and gene combinations: 3
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
HGD
|
235
|
79
|
71
|
176
|
22
|
11
|
512
|
ABTB1, ACAD11, ACAD9, ACKR4, ACP3, ADCY5, ALDH1L1, ALG1L2, ARGFX, ASTE1, ATP2C1, BFSP2, C3orf22, CASR, CCDC14, CD86, CDV3, CFAP100, CFAP92, CHCHD6, CHST13, CNBP, COL6A5, COL6A6, COPG1, CPNE4, CSTA, DNAJB8, DNAJC13, DTX3L, EAF2, EEFSEC, EFCAB12, EFCC1, FAM162A, FBXO40, GATA2, GOLGB1, GP9, GTF2E1, H1-10, H1-8, HACD2, HCLS1, HEG1, HGD, HMCES, HSPBAP1, IFT122, ILDR1, IQCB1, ISY1, ISY1-RAB43, ITGB5, KALRN, KBTBD12, KLF15, KPNA1, LINC01565, MBD4, MCM2, MGLL, MIX23, MRPL3, MUC13, MYLK, NEK11, NPHP3, NUDT16, OSBPL11, PARP14, PARP15, PARP9, PDIA5, PIK3R4, PLXNA1, PLXND1, PODXL2, POLQ, PRR23E, RAB43, RAB7A, RABL3, RHO, ROPN1, ROPN1B, RPN1, RUVBL1, SEC22A, SEC61A1, SEMA5B, SLC12A8, SLC15A2, SLC41A3, SLC49A4, SNX4, STXBP5L, TF, TMCC1, TMEM108, TOPBP1, TPRA1, TRH, TXNRD3, TXNRD3NB, UBA5, UMPS, UROC1, WDR5B, ZNF148, ZXDC
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
HGD, LOC126806786
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
71
|
20
|
24
|
168
|
21
|
0 |
304
|
Department Of Human Genetics, Institute Of Clinical And Translational Research, Biomedical Research Center, Slovak Academy Of Sciences
|
205
|
3
|
0 |
0 |
4
|
0 |
212
|
Illumina Laboratory Services, Illumina
|
3
|
0 |
40
|
6
|
9
|
0 |
58
|
Counsyl
|
10
|
28
|
8
|
0 |
0 |
0 |
46
|
Fulgent Genetics, Fulgent Genetics
|
14
|
2
|
5
|
14
|
1
|
0 |
36
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
11
|
11
|
OMIM
|
10
|
0 |
0 |
0 |
0 |
0 |
10
|
Myriad Genetics, Inc.
|
0 |
9
|
0 |
0 |
0 |
0 |
9
|
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics
|
1
|
7
|
0 |
0 |
0 |
0 |
8
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
3
|
2
|
0 |
0 |
0 |
0 |
5
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
2
|
3
|
0 |
0 |
0 |
0 |
5
|
Revvity Omics, Revvity
|
2
|
2
|
0 |
0 |
0 |
0 |
4
|
Biochemical Genetics Laboratory, National Taiwan University
|
1
|
3
|
0 |
0 |
0 |
0 |
4
|
NxGen MDx
|
0 |
3
|
0 |
0 |
0 |
0 |
3
|
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
2
|
0 |
2
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Chehab Lab, University of California, San Francisco
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Lifecell International Pvt. Ltd
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
3billion
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genomics England Pilot Project, Genomics England
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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