ClinVar Miner

Variants studied for PLA2G6-associated neurodegeneration

Included ClinVar conditions (5):
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 total
28 12 52 10 4 97

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
PLA2G6 27 12 52 10 4 96
LOC112695092, PLA2G6 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 1 0 34 8 0 43
Invitae 6 0 12 2 4 24
OMIM 14 0 0 0 0 14
Baylor Miraca Genetics Laboratories, 6 0 3 0 0 9
Fulgent Genetics 1 2 6 0 0 9
Genomic Research Center,Shahid Beheshti University of Medical Sciences 3 4 1 0 0 8
Genetic Services Laboratory, University of Chicago 1 3 0 0 0 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
Undiagnosed Diseases Network,NIH 1 1 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
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
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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