ClinVar Miner

Variants studied for Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

Coded as:
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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
40 100 122 22 25 279

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 total
GAREM2, HADHA 18 60 68 12 12 151
HADHA 16 37 40 7 10 99
HMGCL 6 3 14 1 2 26
HADHA, HADHB 0 0 0 2 1 3

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Natera, Inc. 14 7 58 17 9 105
Baylor Genetics 27 45 3 0 0 75
Counsyl 0 48 21 0 0 69
Illumina Laboratory Services, Illumina 0 0 46 7 12 65
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 13 8 0 0 0 21
Genome-Nilou Lab 0 0 2 1 9 12
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 2 0 0 0 4
Undiagnosed Diseases Network, NIH 1 0 1 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 1 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 1
Myriad Genetics, Inc. 1 0 0 0 0 1
Pars Genome Lab 0 0 1 0 0 1
Department of Endocrinology and Genetics, Fuzhou Children’s Hospital of Fujian Medical University 0 0 1 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 1

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