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
16 8 8 1 1 1 30

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
NPC2 16 8 8 1 1 1 30

Submitter and significance breakdown #

Total submitters: 13
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Counsyl 2 7 4 0 0 0 13
OMIM 10 0 0 0 0 0 10
GeneReviews 10 0 0 0 0 0 10
Fulgent Genetics 1 0 2 0 0 0 3
Illumina Clinical Services Laboratory,Illumina 0 1 1 0 0 0 2
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 2 0 0 0 0 0 2
Baylor Miraca Genetics Laboratories, 1 0 0 0 0 0 1
Invitae 0 0 0 0 1 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
Genomic Research Center,Shahid Beheshti University of Medical Sciences 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

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