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
28 25 26 3 19 98

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 28 25 26 3 19 98

Submitter and significance breakdown #

Total submitters: 13
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 14 18 20 2 19 73
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
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
Integrated Genetics/Laboratory Corporation of America 1 0 0 0 0 1
Illumina Clinical Services Laboratory,Illumina 0 0 1 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
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 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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