ClinVar Miner

Variants studied for Metachromatic leukodystrophy

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 other not provided total
263 309 460 461 50 1 22 1364

Gene and significance breakdown #

Total genes and gene combinations: 12
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
ARSA 254 281 363 446 44 1 22 1209
PSAP 5 23 92 15 5 0 0 140
ARSA, LOC130067887 0 0 4 0 1 0 0 5
ARSB 2 0 0 0 0 0 0 2
ADM2, ALG12, ARSA, BRD1, CHKB, CIMAP1B, CPT1B, CRELD2, DENND6B, HDAC10, IL17REL, KLHDC7B, LMF2, MAPK11, MAPK12, MAPK8IP2, MIOX, MLC1, MOV10L1, NCAPH2, PANX2, PIM3, PLXNB2, PPP6R2, SBF1, SCO2, SELENOO, SYCE3, TRABD, TTLL8, TUBGCP6, TYMP, ZBED4 1 0 0 0 0 0 0 1
ADM2, ARSA, CHKB, CHKB-CPT1B, CHKB-DT, CIMAP1B, CPT1B, DENND6B, HDAC10, KLHDC7B, KLHDC7B-DT, LINC03232, LMF2, LOC108281149, LOC121627956, LOC121853047, LOC121853048, LOC125446262, LOC126863184, LOC126863185, LOC126863186, LOC130067825, LOC130067826, LOC130067827, LOC130067828, LOC130067829, LOC130067830, LOC130067831, LOC130067832, LOC130067833, LOC130067834, LOC130067835, LOC130067836, LOC130067837, LOC130067838, LOC130067839, LOC130067840, LOC130067841, LOC130067842, LOC130067843, LOC130067844, LOC130067845, LOC130067846, LOC130067847, LOC130067848, LOC130067849, LOC130067850, LOC130067851, LOC130067852, LOC130067853, LOC130067854, LOC130067855, LOC130067856, LOC130067857, LOC130067858, LOC130067859, LOC130067860, LOC130067861, LOC130067862, LOC130067863, LOC130067864, LOC130067865, LOC130067866, LOC130067867, LOC130067868, LOC130067869, LOC130067870, LOC130067871, LOC130067872, LOC130067873, LOC130067874, LOC130067875, LOC130067876, LOC130067877, LOC130067878, LOC130067879, LOC130067880, LOC130067881, LOC130067882, LOC130067883, LOC130067884, LOC130067885, LOC130067886, MAPK11, MAPK12, MAPK8IP2, MIOX, MIR12114, NCAPH2, PLXNB2, PPP6R2, SBF1, SCO2, SELENOO, SYCE3, TUBGCP6, TYMP 0 1 0 0 0 0 0 1
ARSA, CHKB, MAPK8IP2 1 0 0 0 0 0 0 1
ARSB, LOC129994126 0 1 0 0 0 0 0 1
CLCN1 0 1 0 0 0 0 0 1
GFAP 0 1 0 0 0 0 0 1
PYCR2 0 1 0 0 0 0 0 1
YARS1 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 79
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Labcorp Genetics (formerly Invitae), Labcorp 195 91 185 432 22 1 0 926
Natera, Inc. 73 74 149 31 19 0 0 346
Illumina Laboratory Services, Illumina 3 2 88 8 24 0 0 125
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 67 39 0 0 0 0 0 106
Counsyl 4 66 24 0 0 0 0 94
Fulgent Genetics, Fulgent Genetics 30 30 13 1 0 0 0 74
Laboratory of Experimental Gene Therapy of Hereditary Metabolic Diseases, Research Centre for Medical Genetics 30 31 4 0 0 0 0 65
Revvity Omics, Revvity 13 15 5 0 0 0 0 33
3billion 13 7 10 1 0 0 0 31
Myriad Genetics, Inc. 7 15 0 0 0 0 0 22
Neuberg Centre For Genomic Medicine, NCGM 8 6 7 0 0 0 0 21
GeneReviews 0 0 0 0 0 0 15 15
Genome-Nilou Lab 1 1 7 0 4 0 0 13
Baylor Genetics 7 2 3 0 0 0 0 12
OMIM 11 0 0 0 1 0 0 12
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 9 1 1 0 0 0 0 11
Amsterdam Leukodystrophy Center, Amsterdam UMC 9 1 0 0 0 0 0 10
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 3 5 1 0 0 0 10
Institute of Human Genetics, University of Leipzig Medical Center 7 2 1 0 0 0 0 10
Medical Molecular Genetics Department, National Research Center 5 5 0 0 0 0 0 10
Mendelics 6 0 1 1 2 0 0 10
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 1 2 6 0 0 0 0 9
First Genomix Gene Laboratory, Genetic Diagnostics Department 6 2 0 0 0 0 0 8
Neurometabolisches Labor, University hospital Tuebingen 7 0 0 0 1 0 0 8
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 5 2 0 0 0 0 0 7
Centre for Mendelian Genomics, University Medical Centre Ljubljana 6 0 0 0 0 0 0 6
Institute of Human Genetics Munich, TUM University Hospital 4 2 0 0 0 0 0 6
Pars Genome Lab 0 0 0 3 3 0 0 6
Gelb Laboratory, University of Washington 0 0 0 0 0 0 5 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 0 0 1 0 0 0 5
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 4 0 0 0 0 0 0 4
Department of Pathology and Laboratory Medicine, Sinai Health System 2 0 1 0 1 0 0 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 1 0 0 0 0 0 4
Next Generation Genetic Polyclinic 2 2 0 0 0 0 0 4
Genetic Services Laboratory, University of Chicago 3 0 0 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 2 0 0 0 0 0 3
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 2 1 0 0 0 0 0 3
Athena Diagnostics 0 0 0 0 2 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 0 0 0 0 0 0 2
Dubai Health Genomic Medicine Center, Dubai Health 2 0 0 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 0 0 0 0 0 2
Genetics Department, Hospital Ramon y Cajal-IRYCIS 2 0 0 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 2 2
GenomeConnect, ClinGen 0 0 0 0 0 0 2 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 0 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 1 0 0 0 0 2
Laboratory for Molecular Genetic Diagnostic of Neurological Diseases, University of Belgrade, School of Medicine 2 0 0 0 0 0 0 2
MGZ Medical Genetics Center 1 0 1 0 0 0 0 2
Otogenetics 1 1 0 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 1 0 0 0 0 0 2
Rare Genetic Disease Lab, Dept of Zoology, Government Postgraduate College Dargai Malakand, Higher Education Govt. of Khyber Pakhtunkhwa 1 0 1 0 0 0 0 2
SingHealth Duke-NUS Institute of Precision Medicine 0 0 1 0 1 0 0 2
Suma Genomics 1 1 0 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 0 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 1 0 0 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 0 1
Clinical Genomics, G42 Labs 0 1 0 0 0 0 0 1
Department of Genetics, Sultan Qaboos University Hospital 0 1 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 1 0 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 1 0 0 0 0 1
Dr.Nikuei Genetic Center 1 0 0 0 0 0 0 1
Gene Mapping Laboratory, Hacettepe University 1 0 0 0 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 1 0 0 0 0 0 0 1
GenomeConnect - GM1 0 0 0 0 0 0 1 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 1 0 0 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 0 0 1
Molecular Genetic Laboratory, Kuwait Medical Genetic Center 0 0 1 0 0 0 0 1
Molecular Genetics Laboratory, Faculty of Medicine Siriraj Hospital, Mahidol University 1 0 0 0 0 0 0 1
OLLIN Analises Genomicas, OLLIN 0 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 0 1
Watson Genetic Lab 0 1 0 0 0 0 0 1

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