ClinVar Miner

Variants studied for Glycogen storage disease type IXa1

Coded as:
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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
32 24 46 3 19 120

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
PHKA2 32 24 46 3 19 120

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 15 17 38 2 19 91
Mendelics 4 3 3 0 0 10
OMIM 7 0 0 0 0 7
Molecular Diagnostics Laboratory,Seoul National University Hospital 3 2 1 0 0 6
Baylor Genetics 2 0 1 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 0 0 3
Institute of Human Genetics, Klinikum rechts der Isar 1 1 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 2 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 2 0 0 2
Integrated Genetics/Laboratory Corporation of America 1 0 0 0 0 1
Illumina Clinical Services Laboratory,Illumina 0 0 1 0 0 1
Centre for Human Genetics 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 1 0 1

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