ClinVar Miner

Variants studied for metachromatic leukodystrophy

Included ClinVar conditions (7):
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 other not provided total
270 221 616 878 87 1 311 2013

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 other not provided total
ARSA 220 192 330 409 44 1 311 1181
PSAP 45 27 277 448 31 0 0 783
CDH23, PSAP 0 0 4 21 11 0 0 36
ARSA, LOC130067887 0 0 4 0 1 0 0 5
ARSB 3 0 0 0 0 0 0 3
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
ARSA, CHKB, MAPK8IP2 1 0 0 0 0 0 0 1
ARSB, LOC129994126 0 1 0 0 0 0 0 1
ASCC1, CDH23, CHST3, PSAP, SPOCK2, VSIR 0 0 1 0 0 0 0 1
CLCN1 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 73
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Labcorp Genetics (formerly Invitae), Labcorp 214 105 398 828 47 1 0 1593
Gelb Laboratory, University of Washington 0 0 0 0 0 0 306 306
Illumina Laboratory Services, Illumina 3 1 154 39 41 0 0 237
Natera, Inc. 34 3 73 29 19 0 0 158
Counsyl 4 66 24 0 0 0 0 94
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 46 20 0 0 0 0 0 66
Fulgent Genetics, Fulgent Genetics 14 6 17 1 1 0 0 39
OMIM 33 0 0 0 0 0 0 33
Revvity Omics, Revvity 10 10 4 0 0 0 0 24
Genome-Nilou Lab 1 1 7 2 13 0 0 24
Neuberg Centre For Genomic Medicine, NCGM 7 4 6 0 0 0 0 17
GeneReviews 0 0 0 0 0 0 15 15
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 10 3 1 0 0 0 0 14
Myriad Genetics, Inc. 6 8 0 0 0 0 0 14
Baylor Genetics 7 2 3 0 0 0 0 12
Medical Molecular Genetics Department, National Research Center 5 5 0 0 0 0 0 10
Amsterdam Leukodystrophy Center, Amsterdam UMC 9 1 0 0 0 0 0 10
3billion 2 4 3 1 0 0 0 10
Mendelics 6 0 0 1 2 0 0 9
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
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 6 2 0 0 0 0 0 8
Institute of Human Genetics, University of Leipzig Medical Center 7 1 0 0 0 0 0 8
Neurometabolisches Labor, University hospital Tuebingen 7 0 0 0 1 0 0 8
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 2 5 0 0 0 0 7
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 0 1 1 0 0 0 6
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 4 2 0 0 0 0 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 6 0 0 0 0 0 0 6
Pars Genome Lab 0 0 0 3 3 0 0 6
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 4 0 0 0 0 0 0 4
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 3 1 0 0 0 0 0 4
Athena Diagnostics 0 0 0 0 3 0 0 3
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
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 0 1 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 0 0 0 0 0 2
MGZ Medical Genetics Center 1 0 1 0 0 0 0 2
Institute of Experimental Endocrinology, Slovak Academy of Sciences 1 1 0 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 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
GenomeConnect, ClinGen 0 0 0 0 0 0 2 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 2 0 0 0 0 0 0 2
SingHealth Duke-NUS Institute of Precision Medicine 0 0 1 0 1 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
Suma Genomics 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
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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 1 0 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 0 0 1
Donald Williams Parsons Laboratory, Baylor College of Medicine 1 0 0 0 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 1 0 0 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 0 1
Molecular Genetics Laboratory, Faculty of Medicine Siriraj Hospital, Mahidol University 1 0 0 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 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
Lifecell International Pvt. Ltd 0 1 0 0 0 0 0 1
Gene Mapping Laboratory, Hacettepe University 1 0 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 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
Molecular Genetic Laboratory, Kuwait Medical Genetic Center 0 0 1 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 0 0 0 1
Watson Genetic Lab 0 1 0 0 0 0 0 1
Dr.Nikuei Genetic Center 1 0 0 0 0 0 0 1

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