ClinVar Miner

Variants studied for Hyperinsulinism-hyperammonemia syndrome

Coded as:
Minimum submission review status: Collection method:
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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 total
11 2 62 34 14 114

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
GLUD1 11 2 55 28 13 101
GLUD1, SHLD2 0 0 7 6 1 13

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 5 0 18 24 14 61
Illumina Laboratory Services,Illumina 0 0 35 10 3 48
OMIM 9 0 0 0 0 9
Genetic Services Laboratory,University of Chicago 3 1 0 0 0 4
New York Genome Center 0 0 3 0 0 3
Baylor Genetics 0 0 2 0 0 2
Athena Diagnostics Inc 0 0 0 0 2 2
Mendelics 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd,Neuberg Centre for Genomic Medicine 0 0 1 0 0 1

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