ClinVar Miner

Variants studied for 3-hydroxyacyl-CoA dehydrogenase deficiency

Included ClinVar conditions (7):
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
40 58 116 20 10 233

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
GAREM2, HADHA 8 26 32 4 1 68
HADHA 12 27 28 2 2 64
HADHB 11 4 34 5 5 59
HADH 9 1 22 7 1 39
HADHA, HADHB 0 0 0 2 1 3

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 65 18 9 92
Counsyl 1 48 21 0 0 70
Invitae 11 2 23 2 1 39
OMIM 25 0 0 0 0 25
Integrated Genetics/Laboratory Corporation of America 5 4 0 0 0 9
Fulgent Genetics,Fulgent Genetics 3 0 4 0 0 7
Mendelics 4 1 0 0 1 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 2 1 0 0 3
Knight Diagnostic Laboratories,Oregon Health and Sciences University 1 1 0 0 0 2
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 1 0 0 2
Kariminejad - Najmabadi Pathology & Genetics Center 0 2 0 0 0 2
Baylor Genetics 1 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 1
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 1 0 0 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 1 0 0 1

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