ClinVar Miner

Variants in gene GNPTG

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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
49 28 165 112 8 2 321

Condition and significance breakdown #

Total conditions: 4
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 29 7 87 105 7 2 231
Mucolipidosis type III gamma 25 21 98 15 4 0 155
not specified 0 0 1 2 0 0 3
Mucolipidosis 0 2 0 0 0 0 2

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 26 6 82 102 7 0 223
Natera, Inc. 1 0 37 9 4 0 51
Counsyl 3 17 27 0 0 0 47
Illumina Clinical Services Laboratory,Illumina 0 0 39 5 1 0 45
GeneReviews 17 0 0 0 0 0 17
OMIM 9 0 0 0 0 0 9
Mayo Clinic Laboratories, Mayo Clinic 0 0 3 3 0 0 6
CeGaT Praxis fuer Humangenetik Tuebingen 2 0 3 0 0 0 5
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 4 0 0 0 0 4
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 2 1 0 0 0 3
GeneDx 1 1 0 1 0 0 3
PreventionGenetics, PreventionGenetics 0 0 0 2 0 0 2
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 2 0 0 0 0 0 2
SNPedia 0 0 0 0 0 2 2
DNA and Cytogenetics Diagnostics Unit,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
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1

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