ClinVar Miner

Variants studied for Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy

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 total
10 0 19 0 1 30

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic uncertain significance benign total
IARS1 10 19 1 30

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic uncertain significance benign total
Baylor Genetics 1 11 0 12
OMIM 8 0 0 8
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 3 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 2 0 2
Revvity Omics, Revvity Omics 0 1 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 1
Fulgent Genetics, Fulgent Genetics 0 1 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 1
Broad Institute Rare Disease Group, Broad Institute 0 1 0 1
Genome-Nilou Lab 0 0 1 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 1 0 1

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