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
64 34 278 524 43 2 900

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 63 33 250 482 41 2 829
LOC112449713, PHKB 1 1 16 26 1 0 43
LOC130058947, PHKB 0 0 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: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 55 27 203 510 37 0 832
Illumina Laboratory Services, Illumina 0 2 78 16 13 0 109
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 Omics 1 1 4 0 0 0 6
Fulgent Genetics, Fulgent Genetics 1 0 2 1 0 0 4
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 3 0 0 0 0 4
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
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Mendelics 1 0 0 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 Institute Rare Disease Group, Broad Institute 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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