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
82 117 137 43 32 2 355

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 66 109 120 40 31 1 316
NPC2 16 8 15 3 1 1 37
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 13 103 52 5 0 0 173
Illumina Clinical Services Laboratory,Illumina 3 3 62 13 6 0 87
Invitae 11 9 15 6 12 0 53
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 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
Integrated Genetics/Laboratory Corporation of America 11 2 0 0 0 0 13
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 2 7 0 9
Baylor Miraca Genetics Laboratories, 3 0 2 0 0 0 5
Genetic Services Laboratory, University of Chicago 4 1 0 0 0 0 5
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 4 0 0 0 0 0 4
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 1 0 0 0 0 3
Genomic Research Center,Shahid Beheshti University of Medical Sciences 2 0 1 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,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
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

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