ClinVar Miner

Variants in gene IARS1

Minimum submission review status: Collection method:
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Gene type:
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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
23 8 200 149 39 403

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 14 6 80 135 39 267
not specified 0 0 130 11 0 141
Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy 10 1 21 0 1 33
IARS1-related disorder 0 0 3 12 7 22
Global developmental delay; Microcephaly 0 1 1 0 0 2
Inborn genetic diseases 0 0 2 0 0 2

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 12 2 68 126 39 247
Ambry Genetics 0 0 132 10 0 142
PreventionGenetics, part of Exact Sciences 0 0 3 12 7 22
GeneDx 0 3 16 0 0 19
CeGaT Center for Human Genetics Tuebingen 2 0 1 15 0 18
Baylor Genetics 1 0 11 0 0 12
OMIM 8 0 0 0 0 8
Breakthrough Genomics, Breakthrough Genomics 0 0 1 0 6 7
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 3 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 1 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 2 0 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 1 0 1 0 2
Institute of Human Genetics, University of Wuerzburg 0 1 1 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 1 0 0 1
Revvity Omics, Revvity 0 0 1 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 1 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 1
New York Genome Center 0 0 1 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 1

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