ClinVar Miner

Variants studied for Niemann-Pick disease, type C1

Included ClinVar conditions (2):
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
149 159 238 231 50 1 708

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 3 0 8 1 3 0 15
NPC1, RMC1 0 0 4 0 0 0 4
MIR4709, NPC2 0 0 2 0 0 0 2
ACYP1, NPC2 0 0 1 0 0 0 1
MUTYH 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 45
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 93 28 65 204 25 0 415
Counsyl 12 97 49 5 0 0 163
Illumina Clinical Services Laboratory,Illumina 3 2 106 13 25 0 149
Natera, Inc. 14 3 35 9 15 0 76
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 1 0 19 9 0 29
Integrated Genetics/Laboratory Corporation of America 20 4 0 0 0 0 24
Fulgent Genetics,Fulgent Genetics 7 3 12 0 0 0 22
Baylor Genetics 12 2 7 0 0 0 21
Myriad Women's Health, Inc. 2 19 0 0 0 0 21
OMIM 18 0 0 0 0 0 18
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 8 9 0 18
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 1 4 12 0 17
Shanghain Institute for Pediatric Research 14 0 0 0 0 0 14
GeneReviews 8 0 0 0 5 0 13
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
Genetic Services Laboratory, University of Chicago 4 1 0 0 0 0 5
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 2 0 0 1 0 5
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
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 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
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
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
GenomeConnect, ClinGen 0 0 0 0 0 1 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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