ClinVar Miner

Variants in gene PNPLA2

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Minimum submission review status: Collection method:
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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 total
17 3 177 81 24 274

Condition and significance breakdown #

Total conditions: 4
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Neutral lipid storage myopathy 16 2 174 66 20 254
not provided 2 0 5 25 4 35
not specified 0 0 0 10 12 22
Inborn genetic diseases 1 1 0 0 0 2

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 8 0 119 70 11 208
Illumina Clinical Services Laboratory,Illumina 0 0 60 12 15 87
PreventionGenetics, PreventionGenetics 0 0 0 10 12 22
OMIM 11 0 0 0 0 11
CeGaT Praxis fuer Humangenetik Tuebingen 2 0 4 1 0 7
GeneDx 0 0 1 0 4 5
Baylor Genetics 0 0 2 0 0 2
Ambry Genetics 1 1 0 0 0 2
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences 0 1 1 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 0 0 1 1
Mendelics 0 0 0 0 1 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 0 1 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 1
School of Computer Science,University of Waterloo 0 1 0 0 0 1

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