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
36 36 53 136 7 11 247

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 34 36 52 134 5 10 244
ACYP1, NPC2 1 0 1 2 2 1 2
NPC1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 25 5 45 133 6 0 214
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
Fulgent Genetics, Fulgent Genetics 3 5 4 1 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
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
Neuberg Centre For Genomic Medicine, NCGM 0 3 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 0 0 0 0 2
Illumina Laboratory Services, Illumina 0 1 1 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 0 0 0 0 1
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
Daryl Scott Lab, Baylor College of Medicine 0 0 1 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
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 0 1
Dr.Nikuei Genetic Center 1 0 0 0 0 0 1

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