ClinVar Miner

Variants studied for Metachromatic leukodystrophy

Coded as:
Minimum submission review status: Collection method:
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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
238 220 387 478 59 1 312 1355

Gene and significance breakdown #

Total genes and gene combinations: 11
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
ARSA 233 213 328 439 44 1 312 1230
PSAP 1 4 54 18 4 0 0 81
CDH23, PSAP 0 0 0 21 10 0 0 31
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
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
YARS1 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 72
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Labcorp Genetics (formerly Invitae), Labcorp 189 88 184 425 22 1 0 909
Gelb Laboratory, University of Washington 0 0 0 0 0 0 306 306
Illumina Laboratory Services, Illumina 3 2 98 34 34 0 0 171
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 59 25 0 0 0 0 0 84
Fulgent Genetics, Fulgent Genetics 30 30 13 1 0 0 0 74
Revvity Omics, Revvity 10 10 4 0 0 0 0 24
Neuberg Centre For Genomic Medicine, NCGM 7 5 7 0 0 0 0 19
3billion 5 5 5 1 0 0 0 16
GeneReviews 0 0 0 0 0 0 15 15
Myriad Genetics, Inc. 6 8 0 0 0 0 0 14
Genome-Nilou Lab 1 1 7 0 4 0 0 13
OMIM 11 0 0 0 1 0 0 12
Baylor Genetics 7 2 3 0 0 0 0 12
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 9 1 1 0 0 0 0 11
Medical Molecular Genetics Department, National Research Center 5 5 0 0 0 0 0 10
Institute of Human Genetics, University of Leipzig Medical Center 7 2 1 0 0 0 0 10
Amsterdam Leukodystrophy Center, Amsterdam UMC 9 1 0 0 0 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
Mendelics 5 0 0 1 2 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
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 5 0 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
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
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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 1 0 0 0 0 0 3
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 2 1 0 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
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
SingHealth Duke-NUS Institute of Precision Medicine 0 0 1 0 1 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 0 0 0 0 0 0 2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 2 0 0 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
Genetics Department, Hospital Ramon y Cajal-IRYCIS 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 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
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 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
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 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
GenomeConnect - GM1 0 0 0 0 0 0 1 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 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
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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