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
107 131 201 112 52 2 514

Gene and significance breakdown #

Total genes and gene combinations: 5
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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
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
MIR4709, NPC2 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
Invitae 41 20 42 83 29 0 215
Counsyl 16 104 53 5 0 0 178
Illumina Clinical Services Laboratory,Illumina 3 3 107 13 25 0 151
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 1 0 19 9 0 29
OMIM 28 0 0 0 0 0 28
Fulgent Genetics,Fulgent Genetics 8 3 14 0 0 0 25
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
Baylor Genetics 10 2 2 0 0 0 14
Integrated Genetics/Laboratory Corporation of America 11 2 0 0 0 0 13
Mendelics 7 2 0 0 1 0 10
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 2 7 0 9
Genetic Services Laboratory, University of Chicago 4 1 0 0 0 0 5
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 2 3 0 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 0 1 0 0 0 4
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
Myriad Women's Health, Inc. 2 0 0 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
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
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
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 1 0 0 0 0 1

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