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 |
4
|
1
|
411
|
238
|
21
|
6
|
677
|
Gene and significance breakdown #
Total genes and gene combinations: 8
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
|
ACD, LOC130059224
|
0 |
1
|
56
|
19
|
0 |
0 |
75
|
DKC1
|
0 |
0 |
2
|
0 |
0 |
2
|
4
|
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
|
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
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
11
|
0 |
11
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
4
|
4
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Johns Hopkins Genomics, Johns Hopkins University
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Bertuch Lab, Baylor College of Medicine
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
OMIM
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Baylor Genetics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Revvity Omics, Revvity
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Mendelics
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Bone Marrow Failure laboratory, Queen Mary University London
|
0 |
0 |
1
|
0 |
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
|
Genetic Diseases Diagnostic Center, Koc University Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
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