ClinVar Miner

Variants studied for GNPTG-mucolipidosis

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
24 36 144 33 7 14 221

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
GNPTG 24 32 107 26 6 14 177
GNPTG, LOC130058158 0 4 33 7 0 0 39
GNPTG, UNKL 0 0 4 0 1 0 5

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Natera, Inc. 5 2 84 15 6 0 112
Illumina Laboratory Services, Illumina 0 0 43 5 2 0 50
Counsyl 3 16 26 0 0 0 45
Genome-Nilou Lab 6 3 13 16 3 0 41
GeneReviews 3 0 0 0 0 14 17
OMIM 9 0 0 0 0 0 9
Myriad Genetics, Inc. 0 8 1 0 0 0 9
Fulgent Genetics, Fulgent Genetics 0 3 4 1 0 0 8
Revvity Omics, Revvity 2 1 1 0 0 0 4
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 4 0 0 0 0 4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 1 0 0 2
Medical Molecular Genetics Department, Human Genetics and Genome Research Division, National Research Centre 1 1 0 0 0 0 2
3billion 2 0 0 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 1 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 1 0 1 0 0 0 2
Mendelics 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 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
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 0 1 0 0 0 1
Molecular Biology Laboratory, Department of Zoology, Quaid-i-azam University 0 0 1 0 0 0 1

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