ClinVar Miner

Variants in gene NPC1

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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
165 178 346 280 64 1 845

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Niemann-Pick disease type C1 145 155 214 227 47 1 672
not provided 45 25 170 47 18 0 293
not specified 0 0 5 35 41 0 70
Niemann-Pick disease, type C 19 7 8 3 0 0 37
Inborn genetic diseases 2 3 1 0 0 0 6
Niemann-Pick disease, type C1, juvenile form 4 0 0 0 0 0 4
Cataplexy; Cerebellar ataxia; Cognitive impairment; Headache; Speech apraxia; Postural instability 2 0 0 0 0 0 2
Dystonia 0 2 0 0 0 0 2
Niemann-Pick disease, type C1, adult form 2 0 0 0 0 0 2
Sphingomyelin/cholesterol lipidosis 1 1 0 0 0 0 2
none provided 0 0 0 0 2 0 2
Capillary hemangiomas 0 0 1 0 0 0 1
Niemann-Pick disease, type D 1 0 0 0 0 0 1
See cases 0 0 1 0 0 0 1
Seizures; Intellectual disability 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 57
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 93 28 65 230 25 0 441
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 27 10 151 10 36 0 234
Counsyl 12 97 49 5 0 0 163
Illumina Clinical Services Laboratory,Illumina 3 2 91 12 22 0 130
Natera, Inc. 14 3 35 9 15 0 76
GeneDx 20 11 5 7 3 0 46
Mayo Clinic Laboratories, Mayo Clinic 1 1 3 12 18 0 35
PreventionGenetics, PreventionGenetics 0 0 0 16 13 0 29
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 1 0 19 9 0 29
Integrated Genetics/Laboratory Corporation of America 17 4 3 0 3 0 27
CeGaT Praxis fuer Humangenetik Tuebingen 5 3 16 1 0 0 25
OMIM 23 0 0 0 0 0 23
Fulgent Genetics,Fulgent Genetics 7 3 12 0 0 0 22
Baylor Genetics 12 2 7 0 0 0 21
Myriad Women's Health, Inc. 2 19 0 0 0 0 21
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 8 9 0 18
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 1 4 12 0 17
Shanghain Institute for Pediatric Research 14 0 0 0 0 0 14
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 3 3 1 1 5 0 13
GeneReviews 8 0 0 0 5 0 13
Genetic Services Laboratory, University of Chicago 4 1 1 5 0 0 11
Mendelics 7 2 0 0 1 0 10
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 2 7 0 9
Centre for Mendelian Genomics,University Medical Centre Ljubljana 4 4 0 0 1 0 9
Centogene AG - the Rare Disease Company 7 1 0 0 0 0 8
Ambry Genetics 2 3 1 0 0 0 6
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 3 2 0 0 0 0 5
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 1 1 2 0 4
Department of Pathology and Laboratory Medicine,Sinai Health System 0 1 3 0 0 0 4
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 2 1 0 0 0 0 3
Institute of Human Genetics, Klinikum rechts der Isar 3 0 0 0 0 0 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 2 1 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 0 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 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
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
Broad Institute Rare Disease Group, Broad Institute 0 0 2 0 0 0 2
New York Genome Center 0 0 2 0 0 0 2
Nilou-Genome Lab 0 0 1 1 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 1 0 0 0 1
ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories 0 0 1 0 0 0 1
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 1 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 0 0 1
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 1 0 0 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

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