ClinVar Miner

Variants studied for Niemann-Pick disease

Included ClinVar conditions (9):
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
625 657 852 1771 127 37 3589

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 not provided total
NPC1 374 347 592 1206 75 14 2346
SMPD1 201 266 184 407 42 10 939
NPC2 35 37 54 135 5 10 246
LOC130005193, SMPD1 11 7 10 21 2 0 41
NPC1, RMC1 0 0 4 0 0 0 4
NPC2, SYNDIG1L 0 0 2 0 1 0 3
ACYP1, NPC2 1 0 1 2 2 1 2
APBB1, SMPD1 2 0 0 0 0 2 2
LOC130056094, NPC2 0 0 2 0 0 0 2
MIR4709, NPC2 0 0 2 0 0 0 2
ABHD3, ANKRD29, CABLES1, CTAGE1, ESCO1, GATA6, GREB1L, LAMA3, MIB1, MIR1-2, MIR133A1, NPC1, RBBP8, RIOK3, RMC1, SNRPD1, TMEM241 0 0 1 0 0 0 1
ANKRD29, CABLES1, LAMA3, NPC1, RBBP8, RIOK3, RMC1, TMEM241 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 88
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 480 180 549 1719 102 0 3030
Natera, Inc. 64 16 112 55 51 0 298
Counsyl 26 165 85 7 0 0 283
Illumina Laboratory Services, Illumina 4 5 155 22 38 0 224
Fulgent Genetics, Fulgent Genetics 37 56 47 9 6 0 155
Baylor Genetics 79 60 13 0 0 0 152
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 86 55 0 0 0 0 141
Myriad Genetics, Inc. 7 75 8 0 0 0 90
Centogene AG - the Rare Disease Company 57 27 1 0 0 0 85
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 26 11 13 7 0 0 57
Genome-Nilou Lab 2 8 16 4 19 0 49
OMIM 45 0 0 0 0 0 45
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 19 22 0 0 0 0 41
Huiwen Zhang's lab, Shanghai Jiao Tong University School of Medicine, Xinhua Hospital 13 27 1 0 0 0 41
Revvity Omics, Revvity 10 10 16 0 0 0 36
Neuberg Centre For Genomic Medicine, NCGM 8 18 9 0 0 0 35
GeneReviews 0 0 0 0 0 34 34
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 19 6 5 0 0 0 30
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 1 0 18 9 0 28
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 9 9 0 19
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 6 2 8 0 0 0 16
Shanghain Institute for Pediatric Research 15 0 0 0 0 0 15
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 3 11 0 15
Mendelics 9 4 0 0 1 0 14
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 6 5 0 0 0 13
3billion, Medical Genetics 7 2 3 0 0 0 12
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 4 4 0 0 0 0 8
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 6 0 8
Laboratory of Metabolic Disorders, Peking University First Hospital 7 0 0 0 0 0 7
Institute of Human Genetics, University of Leipzig Medical Center 4 2 1 0 0 0 7
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 4 3 0 0 0 0 7
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 1 1 1 3 0 7
Genetic Services Laboratory, University of Chicago 5 1 0 0 0 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 4 0 2 0 0 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 2 1 0 1 0 6
New York Genome Center 1 0 5 0 0 0 6
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 3 1 0 0 0 0 4
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 2 0 0 0 0 4
Juno Genomics, Hangzhou Juno Genomics, Inc 2 2 0 0 0 0 4
Genomics England Pilot Project, Genomics England 4 0 0 0 0 0 4
Molecular Genetics, Royal Melbourne Hospital 0 0 2 0 2 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 3 1 0 0 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 2 0 0 0 0 3
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 2 1 0 0 0 0 3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 3 0 0 0 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 2 0 0 0 3
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 2 1 0 0 0 0 3
Solve-RD Consortium 0 3 0 0 0 0 3
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 1 1 0 0 0 2
MGZ Medical Genetics Center 1 1 0 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 1 1 0 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 2 0 0 0 0 0 2
Laboratory Genomica, Gynecology and Assisted Reproduction Hospital Malinov DM 2 0 0 0 0 0 2
Hereditary Research Laboratory, Bethlehem University 1 1 0 0 0 0 2
Shendure Lab, University of Washington 2 0 0 0 0 0 2
Medical Molecular Genetics Department, National Research Center 0 2 0 0 0 0 2
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 1 1 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 1 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 2 0 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 1 0 0 0 0 2
DASA 1 1 0 0 0 0 2
Payam Genetics Center, General Welfare Department of North Khorasan Province 1 0 1 0 0 0 2
PreventionGenetics, part of Exact Sciences 0 1 0 0 0 0 1
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 1 0 0 0 0 0 1
Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostela 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 1
Laboratorio de Medicina Genomica, Hospital General de Culiacan 1 0 0 0 0 0 1
Manipal Hospitals, Manipal Hospital 0 1 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 1 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 0 1 0 0 0 1
Breda Genetics srl 1 0 0 0 0 0 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 1 0 0 0 0 1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 1 0 0 0 1
Pars Genome Lab 0 0 1 0 0 0 1
Rare Diseases Genetics and Genomics, Islamia College Peshawar 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Genetics Laboratory, University of Sistan and Baluchestan 0 1 0 0 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 1 0 0 0 0 1
Rare Genetic Disease Lab, Dept of Zoology, Government Postgraduate College Dargai Malakand, Higher Education Govt. of Khyber Pakhtunkhwa 1 0 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 0 1 0 0 0 0 1
Dr.Nikuei Genetic Center 1 0 0 0 0 0 1

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