ClinVar Miner

Variants studied for short rib dysplasia

Included ClinVar conditions (59):
Minimum submission review status: Collection method:
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Gene type:
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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
1582 940 6924 8073 984 19 17417

Gene and significance breakdown #

Total genes and gene combinations: 101
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
DYNC2H1 357 250 694 1787 149 1 2920
EVC2 203 128 362 933 72 0 1614
EVC 166 129 417 861 112 0 1579
KIAA0586 83 34 587 407 56 2 1166
TTC21B 72 37 520 423 55 0 1033
WDR19 66 40 490 387 41 2 964
IFT172 43 28 459 421 26 0 952
IFT140 54 23 471 456 48 1 951
CSPP1 77 22 422 277 33 1 826
IFT80, TRIM59-IFT80 42 17 309 205 34 1 572
NEK1 49 31 287 202 42 0 560
IFT122 36 16 250 233 42 5 537
IFT140, LOC105371046 39 19 251 236 29 0 523
WDR35 37 18 260 160 54 1 492
DYNC2I1 20 9 145 169 41 1 377
TCTN3 30 8 171 144 13 0 364
CEP120 17 10 131 143 36 0 334
DYNC2I2 25 10 127 125 17 0 296
ARFGEF1, CSPP1 8 5 103 66 10 0 190
IFT172, KRTCAP3 11 7 74 68 7 1 160
IFT140, LOC126862260 6 6 69 77 5 0 154
IFT172, LOC126806173 9 3 68 56 5 1 138
DYNC2I2, LOC126860772 11 4 70 47 7 0 134
EVC2, LOC126806961 11 12 33 63 11 0 123
IFT172, LOC126806174 6 2 30 40 2 0 77
LOC130004408, TCTN3 7 1 22 26 4 0 60
IFT43 3 5 25 12 3 1 44
EVC, LOC129992144 6 11 5 6 0 0 25
KIAA0753 6 2 0 3 9 0 19
DYNC2LI1 11 2 5 0 1 0 18
EVC2, LOC126806962 0 1 3 12 0 0 16
EVC, EVC2 9 0 2 4 3 0 15
IFT122, LOC126806810 0 1 6 8 2 0 14
IFT80 5 1 5 0 0 0 11
IFT81 7 6 3 0 0 0 11
CFAP410 10 1 0 0 0 0 10
IFT52 6 3 3 0 1 0 10
INTU 3 5 2 2 2 0 10
NEK9 1 2 2 1 3 0 9
LOC129933186, WDR35 0 0 4 2 1 0 7
IFT122, LOC129937552 1 0 3 2 1 1 6
DYNC2I1, LOC129999765 0 0 1 4 0 0 5
TRAF3IP1 4 4 1 0 0 0 5
ABCG5, DYNC2LI1 1 2 1 0 0 0 4
DYNLT2B, TM4SF19-DYNLT2B 2 0 1 0 1 0 4
LOC129993365, NEK1 0 0 3 1 0 0 4
DYNLT2B 2 1 0 0 0 0 3
GRK2 1 2 0 0 0 0 3
IFT74 0 3 2 0 0 0 3
C2CD3 0 0 2 0 0 0 2
CBR4, NEK1, PALLD, SH3RF1 1 0 1 0 0 0 2
CILK1 1 1 0 0 0 0 2
DYNC1H1 0 1 1 0 0 0 2
DYNC2I2, LOC126860772, SPTAN1 1 0 1 0 0 0 2
DYNC2I2, SPTAN1 1 1 1 0 0 0 2
EVC, LOC129992148 0 0 1 1 0 0 2
FUZ 1 2 1 0 0 0 2
IFT43, TGFB3 0 0 0 2 0 0 2
INTU, LOC126807151 0 2 1 0 0 0 2
LBR 2 2 0 0 0 0 2
LOC129993367, NEK1 0 0 0 0 2 0 2
MATN3, WDR35, WDR35-DT 0 0 0 0 2 0 2
RAB34 0 2 0 0 0 0 2
ABCA3, ADCY9, AMDHD2, ANKS3, ANTKMT, ARHGDIG, ATP6V0C, AXIN1, BAIAP3, BICDL2, BRICD5, C16orf90, C16orf96, C1QTNF8, CACNA1H, CAPN15, CASKIN1, CCDC154, CCDC78, CCNF, CDIP1, CEMP1, CHTF18, CIAO3, CLCN7, CLDN6, CLDN9, CLUAP1, CORO7, CORO7-PAM16, CRAMP1, CREBBP, DECR2, DNAAF8, DNAJA3, DNASE1, DNASE1L2, E4F1, ECI1, ELOB, EME2, FAHD1, FAM234A, FBXL16, FLYWCH1, FLYWCH2, GFER, GLIS2, GNG13, GNPTG, HAGH, HAGHL, HCFC1R1, HMOX2, HS3ST6, IFT140, IGFALS, IL32, JMJD8, JPT2, KCTD5, KREMEN2, LMF1, LUC7L, MAPK8IP3, MCRIP2, MEFV, MEIOB, METRN, METTL26, MGRN1, MIR1225, MLST8, MMP25, MRPL28, MRPS34, MSLN, MSRB1, MTRNR2L4, NAA60, NDUFB10, NHERF2, NHLRC4, NLRC3, NME3, NME4, NMRAL1, NOXO1, NPW, NTHL1, NTN3, NUBP2, NUDT16L1, OR1F1, OR2C1, PAM16, PAQR4, PDIA2, PDPK1, PGAP6, PGP, PIGQ, PKD1, PKMYT1, PRR25, PRR35, PRSS21, PRSS22, PRSS27, PRSS33, PRSS41, PTX4, RAB11FIP3, RAB26, RAB40C, RGS11, RHBDL1, RHOT2, RNF151, RNPS1, ROGDI, RPL3L, RPS2, RPUSD1, SEPTIN12, SLX4, SMIM22, SNHG9, SOX8, SPSB3, SRL, SRRM2, SSTR5, STUB1, SYNGR3, TBC1D24, TBL3, TEDC2, TELO2, TFAP4, THOC6, TIGD7, TMEM204, TNFRSF12A, TPSAB1, TPSB2, TPSD1, TPSG1, TRAF7, TRAP1, TSC2, TSR3, UBALD1, UBE2I, UNKL, UQCC4, VASN, WDR24, WDR90, WFIKKN1, ZG16B, ZNF174, ZNF200, ZNF205, ZNF213, ZNF263, ZNF500, ZNF597, ZNF598, ZNF75A, ZSCAN10, ZSCAN32 0 0 1 0 0 0 1
ADD1, ADRA2C, CYTL1, DOK7, EVC2, FAM193A, GRK4, HAUS3, HGFAC, HTT, LINC01587, LRPAP1, LYAR, MFSD10, MSANTD1, MSX1, MXD4, NOP14, NSG1, OTOP1, POLN, RGS12, RNF4, SH3BP2, STK32B, STX18, TMEM128, TNIP2, ZBTB49, ZFYVE28 1 0 0 0 0 0 1
ANGPTL5, BIRC2, BIRC3, CEP126, CFAP300, DCUN1D5, DYNC2H1, MMP1, MMP10, MMP12, MMP13, MMP20, MMP27, MMP3, MMP7, MMP8, TMEM123, TRPC6, YAP1 1 0 0 0 0 0 1
ANTKMT, ARHGDIG, AXIN1, BAIAP3, C1QTNF8, CACNA1H, CAPN15, CCDC154, CCDC78, CHTF18, CIAO3, CLCN7, DECR2, FAM234A, FBXL16, GNG13, GNPTG, HAGHL, IFT140, JMJD8, LMF1, LUC7L, MCRIP2, METRN, METTL26, MRPL28, MSLN, NHLRC4, NME4, PDIA2, PGAP6, PIGQ, PRR25, PRR35, PTX4, RAB11FIP3, RAB40C, RGS11, RHBDL1, RHOT2, RPUSD1, SOX8, SSTR5, STUB1, TELO2, TMEM204, TPSAB1, TPSB2, TPSD1, TPSG1, TSR3, UBE2I, UNKL, UQCC4, WDR24, WDR90, WFIKKN1 1 0 0 0 0 0 1
ARFGEF1, COPS5, CSPP1, MCMDC2, PPP1R42, SNHG6, SNORD87, TCF24 0 0 1 0 0 0 1
ARFGEF1, CPA6, CSPP1 1 0 0 0 0 0 1
ARID4A, KIAA0586, PSMA3, TIMM9, TOMM20L 1 0 0 0 0 0 1
B9D1 0 0 1 0 0 0 1
BBS10 1 0 0 0 0 0 1
CACNG2-DT, IFT27 1 0 0 0 0 0 1
CACNG2-DT, IFT27, LOC126863139 1 0 0 0 0 0 1
CCDC39 0 0 1 0 0 0 1
CFAP410, LOC130066823 0 1 0 0 0 0 1
CLCN7, IFT140, PTX4, TELO2 0 0 1 0 0 0 1
COPS5, CSPP1, PPP1R42 0 0 1 0 0 0 1
CSRNP3, GALNT3, SCN1A, SCN2A, SCN3A, SCN9A, TTC21B 1 0 0 0 0 0 1
DYNLT2B, LOC129938285, TM4SF19-DYNLT2B 0 0 1 0 0 0 1
ENTPD1, TCTN3 0 0 1 0 0 0 1
EVC2, LINC01587, STK32B 1 0 0 0 0 0 1
FAM98C 0 1 0 0 0 0 1
FLVCR1 0 1 0 0 0 0 1
FLVCR1, LOC129932486 0 1 0 0 0 0 1
FNDC4, GCKR, IFT172 0 0 1 0 0 0 1
IFT122, MBD4 0 0 1 0 0 0 1
IFT122, MBD4, RHO 0 0 1 0 0 0 1
IFT140, PTX4, TELO2 0 0 1 0 0 0 1
IFT140, TELO2 1 0 0 0 0 0 1
IFT140, TMEM204 0 0 1 0 0 0 1
IFT88 0 1 1 0 0 0 1
INTU, LOC123480930 1 0 0 0 0 0 1
KIF24 1 0 0 0 0 0 1
LOC112939934, WDR19 0 0 1 0 0 0 1
LOC129935046, TTC21B 0 0 0 0 1 0 1
LOC129993366, NEK1 0 0 1 0 0 0 1
MATN3, WDR35 0 0 0 1 1 0 1
SLTM 0 1 0 0 0 0 1
SPAG17 0 1 0 0 0 0 1
TMEM256, TMEM256-PLSCR3 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 115
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 1236 383 5613 7835 839 0 15906
Illumina Laboratory Services, Illumina 0 2 1100 181 293 0 1534
Fulgent Genetics, Fulgent Genetics 33 55 578 241 16 0 923
University of Washington Center for Mendelian Genomics, University of Washington 1 234 0 0 0 0 235
Dan Cohn Lab, University Of California Los Angeles 183 10 20 0 0 0 212
OMIM 177 0 1 0 0 0 178
Counsyl 16 80 54 2 0 0 152
Genome-Nilou Lab 0 3 6 3 132 0 144
Natera, Inc. 15 3 61 32 31 0 142
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 3 5 37 23 44 0 112
Myriad Genetics, Inc. 1 91 1 0 0 0 93
Revvity Omics, Revvity 15 10 47 1 0 0 73
Baylor Genetics 14 6 43 0 0 0 63
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 13 23 16 0 0 0 51
Rare Disease Group, Clinical Genetics, Karolinska Institutet 15 10 23 0 0 0 48
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 23 11 0 0 0 0 34
Juno Genomics, Hangzhou Juno Genomics, Inc 8 10 13 0 0 0 31
Pars Genome Lab 0 0 0 1 28 0 29
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 7 6 15 0 0 0 28
Neuberg Centre For Genomic Medicine, NCGM 2 9 13 0 0 0 24
Mendelics 6 5 2 0 8 0 21
New York Genome Center 2 3 15 0 0 0 20
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 4 15 0 19
UW Hindbrain Malformation Research Program, University of Washington 17 0 0 0 0 0 17
3billion 4 5 5 3 0 0 17
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 6 3 4 0 0 0 13
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 6 2 4 0 0 0 12
GeneReviews 0 0 0 0 0 11 11
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 3 5 0 0 0 11
SIB Swiss Institute of Bioinformatics 1 9 1 0 0 0 11
Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University 11 0 0 0 0 0 11
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 7 1 2 0 0 0 10
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 3 6 0 0 0 0 9
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 3 3 2 0 0 0 8
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 5 3 0 0 0 0 8
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 4 4 0 0 0 0 8
Institute of Human Genetics, University of Leipzig Medical Center 1 1 5 1 0 0 8
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 8 0 8
Molecular Biology Laboratory, Fundació Puigvert 4 2 0 0 0 0 6
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 6 6
David Geffen School of Medicine, University of California, Los Angeles 5 0 0 0 0 0 5
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 3 1 0 0 0 5
Johns Hopkins Genomics, Johns Hopkins University 0 2 3 0 0 0 5
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 1 0 3 0 5
Molecular Genetics, Royal Melbourne Hospital 0 2 1 1 1 0 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 2 2 0 0 0 5
Genetic Services Laboratory, University of Chicago 2 2 0 0 0 0 4
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 3 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 1 0 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 2 1 0 0 0 4
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 4 0 0 0 0 0 4
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 2 1 1 0 0 0 4
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 3 0 0 0 0 4
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 3 0 0 0 0 4
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 1 2 0 0 0 4
Genomic Medicine Lab, University of California San Francisco 2 1 1 0 0 0 4
MVZ Medizinische Genetik Mainz 0 2 2 0 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 1 0 0 0 0 3
MGZ Medical Genetics Center 0 1 2 0 0 0 3
Centogene AG - the Rare Disease Company 1 1 1 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 2 0 0 0 0 3
DASA 2 1 0 0 0 0 3
Care4Rare-SOLVE, CHEO 0 2 0 0 0 0 2
Department Of Medical Genetics, Faculty Of Medicine, Ege University 0 2 0 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 2 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 1 0 0 0 0 2
Centre for Genomic and Experimental Medicine, University of Edinburgh 2 0 0 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 2 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 2 0 0 0 0 2
Yale Center for Mendelian Genomics, Yale University 2 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Laboratorio de Citogenómica y Microarreglos, Universidad Autonoma de Nuevo Leon 0 2 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 1 0 0 0 2
Cancer Diagnostics Division, Gene Solutions 2 0 0 0 0 0 2
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 2 0 0 0 0 2
Hainan Provincial Key Laboratory for Human Reproductive Medicine and Genetic Research 1 0 1 0 0 0 2
Reproductive Health Research and Development, BGI Genomics 0 0 2 0 0 0 2
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 1 1 0 0 0 0 2
Molecular Genetics laboratory, Necker Hospital 2 0 0 0 0 0 2
Fundación para la Investigación Sanitaria y Biomédica de la Comunidad Valenciana, FISABIO Oftalmología Médica 2 0 0 0 0 0 2
Precision Medical Center, Maternal and Child Health Hospital of Hubei Province 0 0 2 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 1 0 0 0 2
Suma Genomics 1 0 1 0 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 0 2
Eurofins-Biomnis 1 1 0 0 0 0 2
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 1 0 1 0 0 2
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 0 2 0 0 0 0 2
Prenatal Diagnosis Center, International Peace Maternity & Child Health Hospital 2 0 0 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Department of Medical Genetics, Oslo University Hospital 0 1 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 0 1 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 0 1 0 0 1
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 1 0 0 0 0 0 1
Center for Statistical Genetics, Columbia University 1 0 0 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Ege University Pediatric Genetics, Ege University 1 0 0 0 0 0 1
Cormier-Daire Lab, IMAGINE 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 1 0 0 0 0 1
MedGen Diagnostic Laboratory, MedGen Medical Centre 1 0 0 0 0 0 1
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences 1 0 0 0 0 0 1
MNM Diagnostics 1 0 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 0 1
Genetic Diagnostics Department, Viafet Genomics Laboratory 0 1 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 1 0 0 0 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 1 0 0 0 0 0 1
Medical Genetics Laboratory, Etlik City Hospital 1 0 0 0 0 0 1
Royal Medical Services, Bahrain Defence Force Hospital 0 0 1 0 0 0 1

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