ClinVar Miner

Variants in gene combination ACAD9, CFAP92

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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
17 30 59 131 14 221

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 12 11 34 126 12 186
Acyl-CoA dehydrogenase 9 deficiency 6 22 19 6 6 53
Inborn genetic diseases 0 0 12 1 0 13
not specified 0 0 8 4 1 13
ACAD9-related disorder 0 1 1 3 0 5
Mitochondrial complex I deficiency 1 2 0 0 0 3

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 6 26 112 2 158
GeneDx 0 4 7 18 9 38
Baylor Genetics 1 17 0 0 0 18
Illumina Laboratory Services, Illumina 0 0 11 2 4 17
Ambry Genetics 0 0 12 1 0 13
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 2 8 0 0 11
Natera, Inc. 0 1 4 3 2 10
Fulgent Genetics, Fulgent Genetics 0 6 2 1 0 9
CeGaT Center for Human Genetics Tuebingen 0 1 3 3 2 9
Breakthrough Genomics, Breakthrough Genomics 0 0 0 3 6 9
PreventionGenetics, part of Exact Sciences 0 1 1 3 0 5
Revvity Omics, Revvity 0 0 3 0 0 3
Mayo Clinic Laboratories, Mayo Clinic 0 0 3 0 0 3
Institut IMAGINE, Institut National de la Sante et de la Recherche Medicale 3 0 0 0 0 3
OMIM 2 0 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 1
Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur 0 1 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 1 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 1
Pediatric Department, Xiangya Hospital, Central South University 0 1 0 0 0 1

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