ClinVar Miner

Variants studied for Leukoencephalopathy-thalamus and brainstem anomalies-high lactate 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 not provided total
16 6 62 12 24 3 117

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
EARS2 16 6 38 6 11 3 74
EARS2, GGA2 0 0 22 6 13 0 41
EARS2, LOC130058664 0 0 2 0 0 0 2

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 1 45 11 22 0 79
Baylor Genetics 2 0 9 0 0 0 11
OMIM 9 0 0 0 0 0 9
Genome-Nilou Lab 0 0 0 0 7 0 7
Fulgent Genetics, Fulgent Genetics 1 2 0 1 0 0 4
Revvity Omics, Revvity 0 1 2 0 0 0 3
Mendelics 2 0 1 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 1 1 1 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
3billion 1 0 2 0 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 0 0 0 0 0 2
Istanbul Faculty of Medicine, Istanbul University 1 1 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 2 0 0 0 0 0 2
Diagnostic and Treatment Unit for Congenital Metabolic Diseases, Hopital Clínico Universitario de Santiago de Compostela (CHUS) 1 0 1 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 0 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 1 0 0 0 0 0 1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 1 0 0 0 1
Clinical Genomics Program, Stanford Medicine 0 1 0 0 0 0 1

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