ClinVar Miner

Variants studied for galactosemia

Included ClinVar conditions (6):
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
291 325 358 805 53 14 1587

Gene and significance breakdown #

Total genes and gene combinations: 14
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GALT 164 190 151 262 18 9 653
GALK1 61 74 89 295 16 0 476
GALE 33 38 88 221 12 5 353
GALT, LOC130001683 21 23 20 23 0 0 73
GALK1, ITGB4 1 0 4 2 5 0 11
GALM 5 0 1 0 1 0 7
GALE, LOC129929682 0 0 3 1 0 0 4
GALE, HMGCL 2 0 0 0 1 0 3
GALT, LOC130001682, LOC130001683 2 0 0 0 0 0 2
ANKRD18B, APTX, AQP3, AQP7, ARHGEF39, ARID3C, ATOSB, B4GALT1, BAG1, CA9, CCDC107, CCIN, CCL19, CCL21, CCL27, CD72, CHMP5, CIMIP2B, CLTA, CNTFR, CREB3, DCAF12, DCTN3, DNAI1, DNAJA1, DNAJB5, ENHO, EXOSC3, FAM219A, FAM221B, FANCG, FBXO10, FRMPD1, GALT, GBA2, GLIPR2, GNE, GRHPR, HINT2, HRCT1, IL11RA, KIF24, MELK, MSMP, MYORG, NDUFB6, NFX1, NOL6, NPR2, NUDT2, OR13J1, OR2S2, PAX5, PHF24, PIGO, POLR1E, PRSS3, RECK, RGP1, RIGI, RMRP, RNF38, RPP25L, RUSC2, SIGMAR1, SIT1, SMU1, SPAG8, SPATA31F1, SPATA31G1, SPINK4, SPMIP6, STOML2, TAF1L, TESK1, TLN1, TMEM215, TMEM8B, TOMM5, TOPORS, TPM2, TRMT10B, UBAP1, UBAP2, UBE2R2, UNC13B, VCP, ZBTB5, ZCCHC7 0 0 1 0 0 0 1
GALE, HMGCL, LOC129929682 0 0 0 1 0 0 1
GALK1, LOC130061683 0 0 1 0 0 0 1
GALT, IL11RA 1 0 0 0 0 0 1
GALT, IL11RA, LOC121331325, LOC130001682, LOC130001683, LOC130001684 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 61
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 233 82 175 776 39 0 1305
Baylor Genetics 66 79 4 0 0 0 149
Natera, Inc. 39 13 56 25 13 0 146
Counsyl 7 61 59 4 1 0 132
Illumina Laboratory Services, Illumina 3 2 85 16 13 0 119
Fulgent Genetics, Fulgent Genetics 29 63 8 2 2 0 104
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 51 29 1 0 7 0 88
Myriad Genetics, Inc. 5 42 3 0 0 0 50
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 12 8 5 2 9 0 36
OMIM 31 0 0 0 0 0 31
Revvity Omics, Revvity 10 9 7 0 0 0 26
Mendelics 7 8 2 1 4 0 22
GeneReviews 4 0 0 0 3 14 21
Genome-Nilou Lab 0 1 7 3 9 0 20
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 7 5 2 0 0 0 14
3billion, Medical Genetics 4 0 2 0 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 3 1 2 0 0 0 6
Istanbul Faculty of Medicine, Istanbul University 3 1 1 0 0 0 5
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 2 0 0 0 0 4
Lifecell International Pvt. Ltd 3 0 0 0 1 0 4
DASA 3 1 0 0 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 2 1 0 0 0 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 3 0 0 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 3 0 0 0 0 0 3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 2 0 0 0 0 3
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 2 1 0 0 0 0 3
Department of Genetics, Suzhou Beikang Medical Laboratory 0 3 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 0 0 0 0 0 2
MGZ Medical Genetics Center 2 0 0 0 0 0 2
Centogene AG - the Rare Disease Company 2 0 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 0 0 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
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 1 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 2 0 0 0 0 2
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 1 1 0 0 0 0 2
Breda Genetics srl 2 0 0 0 0 0 2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 2 0 0 0 0 0 2
Suma Genomics 2 0 0 0 0 0 2
Molecular Genetics Laboratory, Institute for Ophthalmic Research 1 0 0 0 0 0 1
Elsea Laboratory, Baylor College of Medicine 0 0 1 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 1 0 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 0 0 0 0 1
Biochemical Genetics Department, Cyprus Institute of Neurology and Genetics 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 1 0 0 0 0 0 1
Pars Genome Lab 0 1 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 1
Neonatal Research Center, Shiraz University of Medical Science 1 0 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 0 0 0 0 1 0 1

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