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 not provided total
21 6 278 216 27 1 512

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Neutral lipid storage myopathy 20 4 265 203 23 1 487
not provided 2 1 15 21 16 0 52
Inborn genetic diseases 1 0 26 1 0 0 28
not specified 0 0 0 10 11 0 21
PNPLA2-related condition 0 0 2 8 0 0 10
Abnormality of the musculature 0 1 0 0 0 0 1
Myopathy 0 0 1 0 0 0 1
See cases 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 13 3 201 200 20 0 437
Illumina Laboratory Services, Illumina 0 0 52 10 14 0 76
Revvity Omics, Revvity 3 0 57 1 0 0 61
PreventionGenetics, part of Exact Sciences 0 0 2 18 11 0 31
GeneDx 0 0 8 5 16 0 29
Ambry Genetics 1 0 26 1 0 0 28
CeGaT Center for Human Genetics Tuebingen 2 0 4 11 1 0 18
OMIM 11 0 0 0 0 0 11
Mayo Clinic Laboratories, Mayo Clinic 0 1 4 0 0 0 5
Fulgent Genetics, Fulgent Genetics 0 0 3 0 0 0 3
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences 1 0 2 0 0 0 3
Genome-Nilou Lab 0 0 0 0 3 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 0 0 0 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 0 2 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 0 2
Baylor Genetics 0 0 1 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 0 0 1 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 1
Mendelics 0 0 0 0 1 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 0 1 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
School of Computer Science, University of Waterloo 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1

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