ClinVar Miner

Variants studied for Glycogen storage disease IXb

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
79 52 281 524 43 2 931

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PHKB 78 49 253 482 41 2 859
LOC112449713, PHKB 1 2 16 26 1 0 44
LOC130058947, PHKB 0 1 11 16 1 0 27
ABCC11, ABCC12, C16orf87, DNAJA2, GPT2, ITFG1, MYLK3, NETO2, ORC6, PHKB, VPS35 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 70 30 203 510 37 0 850
Illumina Laboratory Services, Illumina 0 2 78 16 13 0 109
Fulgent Genetics, Fulgent Genetics 2 16 2 1 0 0 21
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 2 5 0 7
OMIM 6 0 0 0 0 0 6
Revvity Omics, Revvity 1 1 4 0 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 1 3 1 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 0 0 0 3
Centre for Human Genetics 3 0 0 0 0 0 3
3billion 3 0 0 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 0 1 0 0 0 3
Baylor Genetics 0 0 2 0 0 0 2
GeneReviews 0 0 0 0 0 2 2
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 1 0 0 0 2
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Mendelics 1 0 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 0 1 0 1
New York Genome Center 0 0 1 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 1

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