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 |
24
|
9
|
426
|
255
|
28
|
45
|
761
|
Gene and significance breakdown #
Total genes and gene combinations: 10
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
ACD
|
3
|
0 |
289
|
190
|
17
|
3
|
499
|
DCLRE1B
|
0 |
0 |
62
|
29
|
4
|
0 |
95
|
DKC1
|
17
|
8
|
16
|
16
|
7
|
40
|
85
|
ACD, LOC130059224
|
0 |
1
|
56
|
19
|
0 |
0 |
75
|
RTEL1, RTEL1-TNFRSF6B
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
AARS1, ACD, AGRP, AP1G1, ATP6V0D1, ATXN1L, B3GNT9, BEAN1, C16orf86, CA7, CALB2, CARMIL2, CBFB, CDH1, CDH16, CDH3, CDH5, CENPT, CES2, CES3, CES4A, CHST4, CHTF8, CIAO2B, CKLF, CKLF-CMTM1, CLEC18A, CLEC18C, CMTM1, CMTM2, CMTM3, CMTM4, CMTR2, COG4, COG8, CTCF, CTRL, CYB5B, DDX19A, DDX19B, DDX28, DHODH, DHX38, DPEP2, DPEP3, DUS2, DYNC1LI2, E2F4, EDC4, ELMO3, ENKD1, ESRP2, EXOC3L1, EXOSC6, FBXL8, FCSK, FHOD1, GFOD2, HAS3, HP, HPR, HSD11B2, HSF4, HYDIN, IL34, IST1, KCTD19, LCAT, LOC400541, LRRC29, LRRC36, MARVELD3, MATCAP1, MIR140, MIR328, MTSS2, NAE1, NFAT5, NFATC3, NIP7, NOB1, NOL3, NQO1, NRN1L, NUTF2, PARD6A, PDF, PDP2, PDPR, PHAF1, PHLPP2, PKD1L3, PLA2G15, PLEKHG4, PRMT7, PSKH1, PSMB10, RANBP10, RIPOR1, RRAD, SF3B3, SLC12A4, SLC7A6, SLC7A6OS, SLC9A5, SMPD3, SNTB2, ST3GAL2, TANGO6, TAT, TERB1, TERF2, THAP11, TK2, TMED6, TMEM208, TPPP3, TRADD, TSNAXIP1, TXNL4B, UTP4, VAC14, VPS4A, WWP2, ZDHHC1, ZFP90, ZNF19, ZNF23, ZNF821
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
DKC1, LOC130068886
|
1
|
0 |
1
|
1
|
0 |
1
|
1
|
POT1
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
TERT
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
TINF2
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
1
|
0 |
406
|
238
|
21
|
0 |
666
|
GeneReviews
|
1
|
0 |
0 |
0 |
0 |
39
|
40
|
PreventionGenetics, part of Exact Sciences
|
0 |
0 |
7
|
13
|
2
|
0 |
22
|
UniProtKB/Swiss-Prot
|
0 |
0 |
0 |
0 |
0 |
22
|
22
|
OMIM
|
16
|
0 |
0 |
0 |
0 |
0 |
16
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
14
|
0 |
14
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
4
|
1
|
1
|
0 |
6
|
Johns Hopkins Genomics, Johns Hopkins University
|
0 |
0 |
3
|
2
|
0 |
0 |
5
|
Baylor Genetics
|
0 |
1
|
2
|
1
|
0 |
0 |
4
|
St. Jude Molecular Pathology, St. Jude Children's Research Hospital
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Bertuch Lab, Baylor College of Medicine
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
3billion
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Pediatric Department
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Genetic Services Laboratory, University of Chicago
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Revvity Omics, Revvity
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Mendelics
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Bone Marrow Failure laboratory, Queen Mary University London
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Dobyns Lab, Seattle Children's Research Institute
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Human Genetics Unit, University Of Colombo
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Daryl Scott Lab, Baylor College of Medicine
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Institutes of Biomedical Sciences, Shanxi University
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Degerman lab, Umeå University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genetic Diseases Diagnostic Center, Koc University Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
GenomeConnect-Association for Creatine Deficiencies, Association for Creatine Deficiencies
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Godley laboratory, The University of Chicago
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
DASA
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
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health behavior solely on the basis of information contained on
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Institutes of Health independently verfies the submitted
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