ClinVar Miner

Variants studied for Niemann-Pick disease

Included ClinVar conditions (7):
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
122 180 203 60 43 2 538

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
NPC1 64 109 120 40 31 1 314
SMPD1 42 63 66 17 11 0 185
NPC2 16 8 15 3 1 1 37
NPC1, RMC1 0 0 2 0 0 0 2

Submitter and significance breakdown #

Total submitters: 34
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Counsyl 25 163 85 7 0 0 280
Illumina Clinical Services Laboratory,Illumina 4 3 91 24 7 0 129
Invitae 16 13 20 10 20 0 79
OMIM 44 0 0 0 0 0 44
GeneReviews 29 0 0 0 7 0 36
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 1 0 19 9 0 29
Fulgent Genetics 8 4 16 0 0 0 28
Integrated Genetics/Laboratory Corporation of America 17 3 0 0 0 0 20
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 1 0 0 9 9 0 19
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 1 4 12 0 17
Shanghain Institute for Pediatric Research 15 0 0 0 0 0 15
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 2 7 0 9
Laboratory of Metabolic Disorders,Peking University First Hospital 7 0 0 0 0 0 7
Genetic Services Laboratory, University of Chicago 5 1 0 0 0 0 6
Baylor Miraca Genetics Laboratories, 3 0 2 0 0 0 5
Genomic Research Center,Shahid Beheshti University of Medical Sciences 3 0 2 0 0 0 5
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 2 0 0 0 0 4
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 2 0 0 0 0 0 2
Mayo Clinic Genetic Testing 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
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 2 0 0 0 0 0 2
Shendure Lab,University of Washington 2 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
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
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
Laboratory Genomica,Gynecology and Assisted Reproduction Hospital Malinov DM 1 0 0 0 0 0 1
Manipal Health Enterprises Pvt Ltd, Manipal Hospital 0 1 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
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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