ClinVar Miner

Variants studied for Saldino-Mainzer syndrome

Coded as:
Minimum submission review status: Collection method:
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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 total
124 39 815 905 84 1872

Gene and significance breakdown #

Total genes and gene combinations: 10
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
IFT140 62 17 485 520 50 1079
IFT140, LOC105371046 49 15 257 293 29 611
IFT140, LOC126862260 9 7 69 92 5 174
WDR19 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 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 1
CLCN7, IFT140, PTX4, TELO2 0 0 1 0 0 1
IFT140, PTX4, TELO2 0 0 1 0 0 1
IFT140, TELO2 1 0 0 0 0 1
IFT140, TMEM204 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 104 29 711 888 75 1807
Illumina Laboratory Services, Illumina 0 1 124 18 32 175
OMIM 15 0 0 0 0 15
Genome-Nilou Lab 0 0 0 0 12 12
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 4 7 11
Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University 7 0 0 0 0 7
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 6 6
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 0 1 1 0 4
Baylor Genetics 1 0 2 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 2 0 0 3
Molecular Biology Laboratory, Fundació Puigvert 3 0 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 1 2 0 0 3
CENTOGENE GmbH and LLC - Guiding Precision Medicine 1 1 0 0 0 2
Eurofins-Biomnis 1 1 0 0 0 2
Fundación para la Investigación Sanitaria y Biomédica de la Comunidad Valenciana, FISABIO Oftalmología Médica 2 0 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 2 2
Institute of Human Genetics Munich, TUM University Hospital 2 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 1 0 0 0 2
Mendelics 1 0 0 0 1 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 0 0 0 2
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 1 0 0 0 0 1
Centre for Medical Genetics, Mumbai 0 0 0 1 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 1
Child Health Department, West China Second University Hospital, Sichuan University 0 1 0 0 0 1
Department of Paediatric Medicine, Post Graduation Institute of Medical Education and Research 0 1 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 0 1 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 0 1 0 0 1
MVZ Martinsried, Medicover Genetics 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 1 0 0 0 0 1

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