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
276 294 379 352 91 2 1168

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
NPC1 147 160 222 230 47 1 687
SMPD1 105 120 126 103 37 0 399
NPC2 21 14 23 18 5 0 71
NPC1, RMC1 0 0 4 0 0 0 4
ACYP1, NPC2 1 0 1 1 2 1 2
APBB1, SMPD1 2 0 0 0 0 0 2
MIR4709, NPC2 0 0 2 0 0 0 2
MUTYH 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 53
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 157 44 100 311 56 0 668
Counsyl 26 167 88 7 0 0 288
Illumina Clinical Services Laboratory,Illumina 4 3 155 22 38 0 222
Natera, Inc. 19 4 70 15 20 0 128
Baylor Genetics 40 17 11 0 0 0 68
Broad Institute Rare Disease Group, Broad Institute 26 11 13 7 0 0 57
Integrated Genetics/Laboratory Corporation of America 36 10 0 0 0 0 46
OMIM 44 0 0 0 0 0 44
Huiwen Zhang's lab,Shanghai Jiao Tong University School of Medicine, Xinhua Hospital 13 27 1 0 0 0 41
GeneReviews 29 0 0 0 7 0 36
Myriad Women's Health, Inc. 6 24 0 0 0 0 30
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
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
Centogene AG - the Rare Disease Company 13 1 0 0 0 0 14
Mendelics 7 3 0 0 1 0 11
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 2 7 0 9
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 3 4 0 0 0 0 7
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
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 0 3 0 0 0 6
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 2 1 0 1 0 6
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
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 3 0 0 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 2 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 2 1 0 0 0 3
Department of Pathology and Laboratory Medicine,Sinai Health System 0 1 2 0 0 0 3
Mayo Clinic 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
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
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 1 0 0 0 0 2
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 2 0 0 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
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
Manipal Health Enterprises Pvt Ltd, Manipal Hospital 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
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
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
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 1 0 0 0 1

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