ClinVar Miner

Variants in gene PLA2G6

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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
51 40 83 12 10 174

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Infantile neuroaxonal dystrophy 18 8 56 10 4 90
Iron accumulation in brain 21 16 17 0 0 54
not provided 13 11 17 1 1 43
not specified 0 0 5 1 8 14
Infantile neuroaxonal dystrophy; Neurodegeneration with brain iron accumulation 2b; Parkinson disease 14 1 2 7 0 0 10
Neurodegeneration with brain iron accumulation 2b 7 3 0 0 0 10
Parkinson disease 14 6 0 0 0 0 6
Inborn genetic diseases 3 0 2 0 0 5
PLA2G6-associated neurodegeneration 2 0 3 0 0 5
Abnormality of brain morphology 0 2 0 0 0 2
Karak syndrome 1 0 0 0 0 1
Neurodegeneration with brain iron accumulation 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Genetic Services Laboratory, University of Chicago 22 19 20 1 8 70
Illumina Clinical Services Laboratory,Illumina 1 0 34 8 0 43
Invitae 8 0 23 2 4 37
GeneDx 13 11 1 0 0 25
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 16 0 0 16
OMIM 15 0 0 0 0 15
Baylor Genetics 6 0 3 0 0 9
Fulgent Genetics,Fulgent Genetics 1 2 6 0 0 9
Genomic Research Center,Shahid Beheshti University of Medical Sciences 3 4 1 0 0 8
Ambry Genetics 3 0 2 0 0 5
Athena Diagnostics Inc 0 0 2 1 1 4
Department of Genetics,Sultan Qaboos University Hospital, Oman 3 0 0 0 0 3
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 2 0 0 2
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 0 2 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 1
Mendelics 0 1 0 0 0 1
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 0 0 1 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 1
Dr. Faghihi's Medical Genetic Center 1 0 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 0 0 1
Undiagnosed Diseases Network,NIH 0 1 0 0 0 1
Genome.One 0 1 0 0 0 1
Broad Institute Rare Disease Group,Broad Institute 0 1 0 0 0 1

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