ClinVar Miner

Variants studied for Niemann-Pick disease type C1

Coded as:
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Gene type:
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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
103 125 191 105 49 1 491

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 103 125 178 104 46 1 474
NPC2 0 0 6 1 3 0 10
NPC1, RMC1 0 0 3 0 0 0 3
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: 34
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 50 24 49 80 25 0 228
Counsyl 12 97 49 5 0 0 163
Illumina Clinical Services Laboratory,Illumina 3 2 95 10 25 0 135
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 1 0 19 9 0 29
Fulgent Genetics,Fulgent Genetics 7 3 12 0 0 0 22
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
Baylor Genetics 9 2 2 0 0 0 13
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
Genetic Services Laboratory,University of Chicago 4 1 0 0 0 0 5
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
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
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
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
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
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
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
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

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