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
129 147 314 167 63 1 670

Condition and significance breakdown #

Total conditions: 17
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Niemann-Pick disease type C1 102 124 178 104 46 1 472
not provided 43 24 168 47 18 0 289
not specified 0 0 5 35 41 0 70
Niemann-Pick disease, type C 18 7 8 3 0 0 36
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
Inborn genetic diseases 1 1 0 0 0 0 2
Intellectual disability 0 2 0 0 0 0 2
Niemann-Pick disease, type C1, adult form 2 0 0 0 0 0 2
Niemann-Pick disease, type C1, juvenile form 2 0 0 0 0 0 2
Capillary hemangiomas 0 0 1 0 0 0 1
Global developmental delay; Short stature; Abnormal facial shape; Wide mouth; Prominent eyelashes 1 0 0 0 0 0 1
Hypomimic face; Parkinsonism; Rigidity 1 0 0 0 0 0 1
Memory impairment; Dysarthria; Myoclonus; Limb ataxia 0 1 0 0 0 0 1
Muscle weakness; Dysphagia; Abnormality of the corticospinal tract; Easy fatigability; EMG abnormality 0 0 0 0 1 0 1
Niemann-Pick disease, type D 1 0 0 0 0 0 1
See cases 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 46
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 50 24 49 114 25 0 262
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
GeneDx 20 11 5 7 3 0 46
Mayo Clinic Genetic Testing 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 16 4 3 0 3 0 26
OMIM 23 0 0 0 0 0 23
Fulgent Genetics,Fulgent Genetics 7 3 12 0 0 0 22
CeGaT Praxis fuer Humangenetik Tuebingen 5 3 14 0 0 0 22
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
Baylor Genetics 9 2 2 0 0 0 13
GeneReviews 8 0 0 0 5 0 13
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 2 3 1 1 5 0 12
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 5 0 0 1 0 9
Centogene AG - the Rare Disease Company 5 0 0 0 0 0 5
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 1 1 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
Ambry Genetics 1 1 0 0 0 0 2
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
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
Myriad Women's Health, Inc. 2 0 0 0 0 0 2
Division of Genomic Diagnostics,The 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
Laboratory Genomica,Gynecology and Assisted Reproduction Hospital Malinov DM 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
SingHealth Duke-NUS Institute of Precision Medicine 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
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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