ClinVar Miner

Variants studied for RNASEH2C-related type 1 interferonopathy

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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
2 6 167 164 17 1 345

Gene and significance breakdown #

Total genes and gene combinations: 6
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
RNASEH2C 2 6 102 121 6 1 226
LOC130006061, RNASEH2C 0 0 33 38 1 0 72
KAT5, RNASEH2C 0 0 29 4 10 0 43
LOC130006062, RNASEH2C 0 0 1 1 0 0 2
ACTN3, ACY3, AIP, ALDH3B1, ALDH3B2, ANKRD13D, ANO1, AP5B1, B4GAT1, BANF1, BBS1, BRMS1, C11orf24, C11orf68, C11orf86, CABP2, CABP4, CAPN1, CARNS1, CATSPER1, CCDC85B, CCDC87, CCND1, CCS, CD248, CDC42EP2, CDK2AP2, CFL1, CHKA, CLCF1, CNIH2, CORO1B, CPT1A, CST6, CTSF, CTSW, DPF2, DPP3, DRAP1, EFEMP2, EHBP1L1, EIF1AD, FADD, FAM89B, FGF19, FGF3, FGF4, FIBP, FOSL1, FRMD8, GAL, GAL3ST3, GPR152, GRK2, GSTP1, IGHMBP2, KAT5, KCNK7, KDM2A, KLC2, KMT5B, LRFN4, LRP5, LTBP3, LTO1, MALAT1, MAP3K11, MRGPRD, MRGPRF, MRPL11, MRPL21, MUS81, MYEOV, NDUFS8, NDUFV1, NDUFV1-DT, NEAT1, NPAS4, NUDT8, OVOL1, PACS1, PC, PCNX3, PELI3, PITPNM1, POLA2, POLD4, PPP1CA, PPP6R3, PTPRCAP, RAB1B, RAD9A, RBM14, RBM14-RBM4, RBM4, RBM4B, RCE1, RELA, RHOD, RIN1, RNASEH2C, RPS6KB2, SART1, SCYL1, SF3B2, SIPA1, SLC25A45, SLC29A2, SNX32, SPTBN2, SSH3, SYT12, TBC1D10C, TBX10, TCIRG1, TESMIN, TIGD3, TMEM134, TMEM151A, TOP6BL, TPCN2, TSGA10IP, UNC93B1, YIF1A, ZDHHC24, ZNRD2 0 0 1 0 0 0 1
AP5B1, CFL1, EFEMP2, EHBP1L1, FAM89B, KAT5, KCNK7, LTBP3, MAP3K11, MUS81, OVOL1, PCNX3, RELA, RNASEH2C, SIPA1, SNX32, ZNRD2 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 20
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 1 0 116 154 6 0 277
Illumina Laboratory Services, Illumina 0 0 47 7 11 0 65
Fulgent Genetics, Fulgent Genetics 1 0 3 2 1 0 7
Baylor Genetics 0 0 4 0 0 0 4
Revvity Omics, Revvity 1 0 3 0 0 0 4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 4 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 1 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 3 0 0 3
OMIM 2 0 0 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 1 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 1 0 0 0 2
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 0 1 1 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 1 1 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 1
3billion 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.