ClinVar Miner

Variants studied for DKC1-related disorder

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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 13 522 319 29 46 926

Gene and significance breakdown #

Total genes and gene combinations: 11
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ACD 3 2 370 245 17 4 638
DKC1 17 10 26 18 7 40 98
DCLRE1B 0 0 60 31 4 0 95
ACD, LOC130059224 0 1 63 24 0 0 87
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
AP4B1, DCLRE1B 0 0 0 0 1 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 #

Total submitters: 40
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 1 0 491 300 22 0 814
GeneReviews 1 0 0 0 0 39 40
PreventionGenetics, part of Exact Sciences 1 0 6 15 2 0 24
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 11 1 1 0 13
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 3 2 1 0 0 6
Johns Hopkins Genomics, Johns Hopkins University 0 0 3 2 0 0 5
Baylor Genetics 0 1 2 1 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 0 1 3 0 0 0 4
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 4 0 0 0 4
3billion 0 0 2 1 0 0 3
Bertuch Lab, Baylor College of Medicine 2 0 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
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
Pediatric Department 2 0 0 0 0 0 2
Bone Marrow Failure laboratory, Queen Mary University London 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 0 1 0 0 1
Dasa 0 1 0 0 0 0 1
Degerman lab, Umeå University 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Dobyns Lab, Seattle Children's Research Institute 1 0 0 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 0 0 1 0 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 1 0 0 0 0 1
Genetic Diseases Diagnostic Center, Koc University Hospital 1 0 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 1 0 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
GenomeConnect-Association for Creatine Deficiencies, Association for Creatine Deficiencies 0 0 0 0 0 1 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 0 1
Godley laboratory, The University of Chicago 0 1 0 0 0 0 1
Human Genetics Unit, University Of Colombo 0 1 0 0 0 0 1
Institutes of Biomedical Sciences, Shanxi University 0 0 0 0 1 0 1
Mendelics 0 1 0 0 0 0 1
Revvity Omics, Revvity 0 0 1 0 0 0 1

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