ClinVar Miner

Variants studied for Glycogen storage disease IXc

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
43 16 79 208 14 331

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
PHKG2 43 16 75 208 13 326
LOC130058864, PHKG2 0 0 4 0 1 5

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 28 4 37 206 12 287
Illumina Laboratory Services, Illumina 0 0 31 2 1 34
Fulgent Genetics, Fulgent Genetics 2 4 3 0 0 9
OMIM 7 0 0 0 0 7
Neuberg Centre For Genomic Medicine, NCGM 2 1 4 0 0 7
Baylor Genetics 0 0 6 0 0 6
Mendelics 3 2 0 0 0 5
Centre for Human Genetics 4 0 0 0 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 1 0 0 3
3billion 2 0 1 0 0 3
Revvity Omics, Revvity 0 0 2 0 0 2
Molecular Diagnostics Laboratory, Seoul National University Hospital 1 1 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 1 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 1 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 1 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 1 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 0 1 0 0 0 1

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