ClinVar Miner

Variants in gene NPC1

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Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
411 461 872 1371 119 49 2802

Condition and significance breakdown #

Total conditions: 43
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Niemann-Pick disease, type C1 393 411 676 1258 75 14 2537
not provided 69 55 232 153 66 0 510
not specified 0 0 81 48 59 0 171
NPC1-related disorder 11 8 32 112 7 0 170
Inborn genetic diseases 7 4 61 64 0 0 136
Niemann-Pick disease, type C 59 51 0 0 0 0 109
Ovarian serous cystadenocarcinoma 0 0 0 0 0 7 7
Sphingomyelin/cholesterol lipidosis 5 1 0 0 0 0 6
Melanoma 0 0 0 0 0 5 5
Uterine corpus endometrial carcinoma 0 0 0 0 0 5 5
Cervical cancer 0 0 0 0 0 4 4
Familial cancer of breast 0 0 0 0 0 4 4
Malignant tumor of esophagus 0 0 0 0 0 4 4
Niemann-Pick disease, type C1, juvenile form 4 0 0 0 0 0 4
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 4 4
Colon adenocarcinoma 0 0 0 0 0 3 3
Gastric cancer 0 0 0 0 0 3 3
Lung cancer 0 0 0 0 0 3 3
Thymoma 0 0 0 0 0 3 3
Abnormality of metabolism/homeostasis 1 1 0 0 0 0 2
Acute myeloid leukemia 0 0 0 0 0 2 2
Autosomal recessive NPC1-related disorders 2 0 0 0 0 0 2
Cataplexy; Cerebellar ataxia; Cognitive impairment; Headache; Speech apraxia; Postural instability 2 0 0 0 0 0 2
Dystonic disorder 0 2 0 0 0 0 2
Intellectual disability 0 0 2 0 0 0 2
Malignant tumor of urinary bladder 0 0 0 0 0 2 2
Niemann-Pick disease, type A 0 2 0 0 0 0 2
Niemann-Pick disease, type C1, adult form 2 0 0 0 0 0 2
Papillary renal cell carcinoma type 1 0 0 0 0 0 2 2
Russell-Silver syndrome 0 0 2 0 0 0 2
Sarcoma 0 0 0 0 0 2 2
See cases 0 1 1 0 0 0 2
Adrenocortical carcinoma, hereditary 0 0 0 0 0 1 1
Capillary hemangioma 0 0 1 0 0 0 1
Cholangiocarcinoma 0 0 0 0 0 1 1
Colorectal cancer 0 0 0 0 0 1 1
Lymphoma 0 0 0 0 0 1 1
Lysosomal storage disease 1 0 0 0 0 0 1
Nasopharyngeal carcinoma 0 0 0 0 1 0 1
Niemann-Pick disease, type C2 1 0 0 0 0 0 1
Niemann-Pick disease, type D 1 0 0 0 0 0 1
Nonpapillary renal cell carcinoma 0 0 0 0 0 1 1
Uveal melanoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 104
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 303 104 419 1236 56 0 2118
Natera, Inc. 68 101 155 23 26 0 373
GeneDx 34 29 59 71 58 0 251
Eurofins Ntd Llc (ga) 27 10 151 10 36 0 234
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 63 49 78 14 5 0 209
PreventionGenetics, part of Exact Sciences 11 7 31 124 20 0 193
Counsyl 12 95 49 5 0 0 161
Ambry Genetics 7 4 61 64 0 0 136
Illumina Laboratory Services, Illumina 3 4 79 9 22 0 117
Mayo Clinic Laboratories, Mayo Clinic 7 5 21 40 33 0 106
CeGaT Center for Human Genetics Tuebingen 10 7 23 43 3 0 86
CENTOGENE GmbH and LLC - Guiding Precision Medicine 51 27 0 0 0 0 78
Myriad Genetics, Inc. 4 62 2 0 0 0 68
Fulgent Genetics, Fulgent Genetics 11 8 33 7 5 0 64
Breakthrough Genomics, Breakthrough Genomics 0 0 6 26 27 0 59
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 1 2 35 18 0 50
Revvity Omics, Revvity 10 13 18 0 0 0 41
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 3 3 4 11 15 0 35
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 35 35
Clinical Genetics, Academic Medical Center 1 0 0 7 20 0 28
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 5 0 1 12 10 0 28
Genome-Nilou Lab 1 4 8 3 12 0 28
OMIM 23 0 0 0 0 0 23
3billion 10 6 5 0 0 0 21
Baylor Genetics 12 2 7 0 0 0 21
Genetic Services Laboratory, University of Chicago 9 4 1 5 0 0 19
Neuberg Centre For Genomic Medicine, NCGM 3 10 6 0 0 0 19
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 8 3 8 0 0 0 19
Department of Pathology and Laboratory Medicine, Sinai Health System 2 4 12 0 0 0 18
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 1 0 10 7 0 18
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 8 4 3 0 0 0 15
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 4 3 1 1 5 0 14
Shanghain Institute for Pediatric Research 14 0 0 0 0 0 14
GeneReviews 0 0 0 0 0 13 13
Mendelics 9 2 0 1 1 0 13
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 2 0 2 1 7 0 12
Centre for Mendelian Genomics, University Medical Centre Ljubljana 4 4 0 0 1 0 9
AiLife Diagnostics, AiLife Diagnostics 2 5 0 0 0 0 7
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 3 2 1 0 0 7
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 2 3 0 0 0 7
Institute of Human Genetics Munich, TUM University Hospital 4 3 0 0 0 0 7
Dasa 6 0 0 0 0 0 6
First Genomix Gene Laboratory, Genetic Diagnostics Department 1 5 0 0 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 5 0 1 0 0 0 6
Laboratory of Genetics, Children's Clinical University Hospital Latvia 1 0 0 2 3 0 6
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 4 2 0 0 0 0 6
Dubai Health Genomic Medicine Center, Dubai Health 0 0 1 1 3 0 5
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 4 1 0 0 0 0 5
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 3 0 0 0 0 5
Variantyx, Inc. 4 1 0 0 0 0 5
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 1 2 0 4
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 4 0 0 0 4
Genomics England Pilot Project, Genomics England 4 0 0 0 0 0 4
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 3 1 0 4
New York Genome Center 1 0 3 0 0 0 4
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 2 1 0 0 3
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 2 1 0 0 0 0 3
Department of Reproductive Genetics, International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine 3 0 0 0 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 2 1 0 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 1 0 0 0 0 3
Molecular Genetics, Royal Melbourne Hospital 0 0 2 0 1 0 3
Solve-RD Consortium 0 3 0 0 0 0 3
Athena Diagnostics 0 1 1 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 2 0 0 0 2
Center of Human Genetics, Hôpital Erasme 2 0 0 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 2 0 0 0 0 0 2
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 1 1 0 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 2 0 0 0 0 0 2
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 1 0 1 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 0 0 0 0 2
Hereditary Research Laboratory, Bethlehem University 1 1 0 0 0 0 2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 0 1 0 0 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 1 0 0 0 0 2
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 1 1 0 0 0 2
Kariminejad - Najmabadi Pathology & Genetics Center 1 1 0 0 0 0 2
Laboratory Genomica, Gynecology and Assisted Reproduction Hospital Malinov DM 2 0 0 0 0 0 2
Medical Molecular Genetics Department, National Research Center 0 2 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 2 0 0 0 0 2
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 1 0 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 1 0 0 0 0 2
Shendure Lab, University of Washington 2 0 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 1
Breda Genetics srl, Breda Genetics srl 1 0 0 0 0 0 1
Centre of Medical Genetics, University Hospital Muenster 0 0 1 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 0 0 0 0 1
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 1 0 0 0 0 0 1
Department of Genetics, Sultan Qaboos University Hospital 0 0 1 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 1 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 0 0 0 0 0 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 1 0 0 0 0 1
NHS Central & South Genomic Laboratory Hub 1 0 0 0 0 0 1
Pars Genome Lab 0 0 1 0 0 0 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 1 0 0 0 0 0 1
Rare Diseases Genetics and Genomics, Islamia College Peshawar 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
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 0 1 0 0 0 1

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