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
169 213 291 158 88 2 783

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
NPC1 87 122 176 107 46 1 459
SMPD1 60 82 90 46 36 0 267
NPC2 19 9 18 4 5 0 47
NPC1, RMC1 0 0 4 0 0 0 4
ACYP1, NPC2 1 0 1 1 1 1 2
APBB1, SMPD1 2 0 0 0 0 0 2
MIR4709, NPC2 0 0 2 0 0 0 2

Submitter and significance breakdown #

Total submitters: 41
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 62 29 55 119 55 0 320
Counsyl 28 167 88 7 0 0 290
Illumina Clinical Services Laboratory,Illumina 4 3 155 22 38 0 222
Baylor Genetics 34 17 2 0 0 0 53
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,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
Mendelics 7 3 0 0 1 0 11
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
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 2 4 0 0 0 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 0 3 0 0 0 6
Myriad Women's Health, Inc. 6 0 0 0 0 0 6
Institute of Human Genetics,Klinikum rechts der Isar 3 0 0 0 0 0 3
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, FRIGE's 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
Broad Institute Rare Disease Group,Broad Institute 0 0 2 0 0 0 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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 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
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 1 0 0 0 0 0 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 1 0 0 0 0 1
Natera Inc 0 0 1 0 0 0 1

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