ClinVar Miner

Variants studied for Glycogen storage disease IXd

Coded as:
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 not provided total
19 5 223 141 36 1 410

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 not provided total
PHKA1 19 5 223 141 36 0 409
PHKA2 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 12 3 194 134 23 0 366
Illumina Laboratory Services, Illumina 0 0 24 7 22 0 53
Baylor Genetics 2 0 4 0 0 0 6
OMIM 5 0 0 0 0 0 5
Revvity Omics, Revvity Omics 0 0 5 0 0 0 5
Mendelics 1 1 0 1 0 0 3
MGZ Medical Genetics Center 0 0 2 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 1 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 1 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 1
GeneReviews 0 0 0 0 0 1 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 1 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 1 0 0 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 0 1 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1

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