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
91 125 258 74 54 1 501

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Niemann-Pick disease type C1 61 107 74 30 31 1 265
not provided 41 22 160 13 18 0 248
Niemann-Pick disease, type C 12 3 47 11 6 0 79
not specified 0 0 3 35 41 0 69
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
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
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: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 27 10 151 10 36 0 234
Counsyl 11 96 48 5 0 0 160
Illumina Clinical Services Laboratory,Illumina 3 2 52 11 6 0 74
Invitae 11 9 15 6 11 0 52
GeneDx 20 11 5 7 3 0 46
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 1 1 3 12 18 0 35
PreventionGenetics 0 0 0 16 13 0 29
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 1 0 19 9 0 29
OMIM 23 0 0 0 0 0 23
Fulgent Genetics 7 3 12 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
Integrated Genetics/Laboratory Corporation of America 10 2 2 0 1 0 15
Shanghain Institute for Pediatric Research 14 0 0 0 0 0 14
GeneReviews 8 0 0 0 5 0 13
Genetic Services Laboratory, University of Chicago 4 1 1 5 0 0 11
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 1 0 1 5 0 9
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 2 7 0 9
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 5 0 0 0 6
Baylor Genetics 2 0 2 0 0 0 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 2 0 0 0 0 4
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 1 1 1 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
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, Inc. 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

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