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
216 190 385 447 59 1 15 1173

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
ARSA 211 186 327 408 44 1 15 1052
PSAP 1 3 54 18 4 0 0 80
CDH23, PSAP 0 0 0 21 10 0 0 31
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
ARSB, LOC129994126 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 60
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Invitae 174 83 187 395 22 1 0 862
Illumina Laboratory Services, Illumina 3 1 100 34 34 0 0 172
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 42 16 0 0 0 0 0 58
Fulgent Genetics, Fulgent Genetics 14 5 13 1 0 0 0 33
Revvity Omics, Revvity 10 10 4 0 0 0 0 24
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
Neuberg Centre For Genomic Medicine, NCGM 7 2 4 0 0 0 0 13
Baylor Genetics 7 2 3 0 0 0 0 12
OMIM 11 0 0 0 0 0 0 11
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
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
3billion 1 4 3 0 0 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
Institute of Human Genetics, University of Leipzig Medical Center 6 1 0 0 0 0 0 7
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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 5 0 0 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
Athena Diagnostics Inc 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
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 2 1 0 0 0 0 0 3
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
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 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
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
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

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