ClinVar Miner

Variants studied for Niemann-Pick disease

Included ClinVar conditions (8):
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
594 604 838 1701 127 37 3439

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 not provided total
NPC1 353 329 585 1154 75 14 2257
SMPD1 194 235 176 397 42 10 891
NPC2 33 33 55 127 5 10 234
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

Submitter and significance breakdown #

Total submitters: 79
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 452 172 540 1649 102 0 2915
Natera, Inc. 64 16 112 55 51 0 298
Counsyl 26 165 85 7 0 0 283
Illumina Laboratory Services, Illumina 4 5 156 22 38 0 225
Baylor Genetics 71 50 13 0 0 0 134
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 75 46 0 0 0 0 121
Fulgent Genetics, Fulgent Genetics 21 13 47 9 6 0 96
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 44 0 0 0 0 0 44
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
GeneReviews 0 0 0 0 0 34 34
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 1 0 18 9 0 28
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 14 5 3 0 0 0 22
Neuberg Centre For Genomic Medicine, NCGM 4 11 5 0 0 0 20
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 9 9 0 19
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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 1 7 0 0 0 12
3billion 7 2 3 0 0 0 12
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 6 5 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
Genetic Services Laboratory, University of Chicago 5 1 0 0 0 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 0 3 0 0 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 2 1 0 1 0 6
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 1 3 0 5
New York Genome Center 1 0 4 0 0 0 5
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 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
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
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 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
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
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
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

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