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
79 117 135 37 22 1 339

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
NPC1 78 117 126 35 22 1 327
NPC2 1 0 7 2 0 0 10
NPC1, RMC1 0 0 2 0 0 0 2

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Counsyl 14 97 49 5 0 0 165
Illumina Clinical Services Laboratory,Illumina 3 2 61 13 6 0 85
Invitae 20 13 23 1 0 0 57
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
Integrated Genetics/Laboratory Corporation of America 11 2 0 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
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
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
Broad Institute Rare Disease Group,Broad Institute 0 0 2 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
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

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