ClinVar Miner

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

Included ClinVar conditions (3):
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
128 135 204 511 37 929

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 65 71 108 262 20 474
HADHA 55 61 81 246 14 423
HMGCL 6 3 14 1 2 26
HADHA, HADHB 2 0 1 2 1 6

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 113 20 113 500 21 767
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
Myriad Genetics, Inc. 1 22 0 0 0 23
Fulgent Genetics, Fulgent Genetics 5 4 9 2 1 21
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 9 8 0 0 0 17
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
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
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 1
New York Genome Center 1 0 0 0 0 1
Pars Genome Lab 0 0 1 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 1
Department of Genetics, Suzhou Beikang Medical Laboratory 0 1 0 0 0 1

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