ClinVar Miner

Variants studied for Niemann-Pick disease type C

Included ClinVar conditions (3):
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
168 173 253 249 54 2 765

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
NPC1 146 159 222 230 47 1 685
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
MIR4709, NPC2 0 0 2 0 0 0 2
MUTYH 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 47
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 103 30 69 220 29 0 451
Counsyl 14 104 53 5 0 0 176
Illumina Clinical Services Laboratory,Illumina 3 3 107 13 25 0 151
Natera, Inc. 16 3 43 10 19 0 91
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 1 0 19 9 0 29
OMIM 28 0 0 0 0 0 28
Myriad Women's Health, Inc. 2 24 0 0 0 0 26
Fulgent Genetics,Fulgent Genetics 8 3 14 0 0 0 25
Baylor Genetics 14 2 8 0 0 0 24
Integrated Genetics/Laboratory Corporation of America 20 4 0 0 0 0 24
GeneReviews 18 0 0 0 5 0 23
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 2 0 0 1 0 10
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 2 7 0 9
Centogene AG - the Rare Disease Company 7 1 0 0 0 0 8
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 3 3 0 0 0 0 6
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 2 1 0 1 0 6
Genetic Services Laboratory, University of Chicago 4 1 0 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 0 1 0 0 0 4
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
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
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 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
Broad Institute Rare Disease Group, Broad Institute 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
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 0 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
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 1 0 0 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
New York Genome Center 0 0 1 0 0 0 1

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