ClinVar Miner

Variants studied for Niemann-Pick disease, type C2

Included ClinVar conditions (1):
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
35 31 54 128 7 11 236

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
NPC2 33 31 53 126 5 10 233
ACYP1, NPC2 1 0 1 2 2 1 2
NPC1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 25 5 45 125 6 0 206
Natera, Inc. 3 1 10 1 4 0 19
Myriad Genetics, Inc. 0 13 1 0 0 0 14
Counsyl 2 7 4 0 0 0 13
OMIM 10 0 0 0 0 0 10
GeneReviews 0 0 0 0 0 10 10
Revvity Omics, Revvity 2 2 2 0 0 0 6
Fulgent Genetics, Fulgent Genetics 1 0 4 1 0 0 6
Genome-Nilou Lab 0 1 3 0 1 0 5
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 3 1 0 0 0 0 4
Baylor Genetics 2 0 1 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 0 2
Illumina Laboratory Services, Illumina 0 1 1 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 2 0 0 0 0 2
Shanghain Institute for Pediatric Research 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
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 0 1

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