ClinVar Miner

Variants studied for short chain acyl-CoA dehydrogenase deficiency

Included ClinVar conditions (1):
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 likely risk allele not provided total
45 81 209 105 24 1 4 396

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 likely risk allele not provided total
ACADS 44 78 208 105 24 1 4 391
ECHDC1 0 3 0 0 0 0 0 3
ABCB9, ACADS, ANAPC5, ARL6IP4, ATP6V0A2, B3GNT4, BCL7A, BICDL1, C12orf43, CABP1, CAMKK2, CCDC62, CDK2AP1, CFAP251, CIT, CLIP1, COQ5, COX6A1, DDX55, DENR, DIABLO, DYNLL1, EIF2B1, GATC, GCN1, GTF2H3, HCAR1, HCAR2, HCAR3, HIP1R, HNF1A, HPD, IL31, KDM2B, KMT5A, KNTC1, LRRC43, MLEC, MLXIP, MORN3, MPHOSPH9, MSI1, MTRFR, OASL, OGFOD2, ORAI1, P2RX4, P2RX7, PITPNM2, PLA2G1B, POP5, PSMD9, PXN, RAB35, RHOF, RILPL1, RILPL2, RNF10, RNF34, RPLP0, RSRC2, SBNO1, SETD1B, SIRT4, SNRNP35, SPPL3, SRSF9, TCTN2, TMED2, TMEM120B, TRIAP1, UNC119B, VPS33A, VPS37B, ZCCHC8 0 0 1 0 0 0 0 1
ACADS, HNF1A, SPPL3 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 40
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele not provided total
Labcorp Genetics (formerly Invitae), Labcorp 34 23 143 96 14 0 0 310
Counsyl 2 33 36 0 0 0 0 71
Illumina Laboratory Services, Illumina 3 3 37 2 14 0 0 59
Genome-Nilou Lab 2 21 13 8 6 0 0 50
Fulgent Genetics, Fulgent Genetics 5 3 7 0 2 0 0 17
OMIM 16 0 0 0 0 0 0 16
Revvity Omics, Revvity 6 2 7 0 0 0 0 15
Myriad Genetics, Inc. 1 9 0 0 0 0 0 10
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 5 4 0 0 0 0 0 9
Neonatal Disease Screening Center, Medical Genetics Center, Huaihua City Maternal and Child Health Care Hospital 5 2 1 0 0 0 0 8
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 2 1 1 0 0 0 5
Baylor Genetics 3 0 1 0 0 0 0 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 4 0 0 4
MGZ Medical Genetics Center 1 2 0 0 0 0 0 3
GeneReviews 0 0 0 0 0 0 3 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 2 0 0 0 0 0 3
Research Unit for Molecular Medicine, Department for Clinical Medicine, Aarhus University 0 3 0 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 0 3 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 3 0 0 0 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 1 0 0 0 0 0 2
Mendelics 0 0 0 1 1 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 1 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 0 2 0 0 0 0 2
Reproductive Health Research and Development, BGI Genomics 2 0 0 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 1 0 1 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 0 1
Elsea Laboratory, Baylor College of Medicine 0 1 0 0 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 0 1
New York Genome Center 1 0 0 0 0 0 0 1
3billion 1 0 0 0 0 0 0 1
DASA 0 1 0 0 0 0 0 1
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 0 0 0 0 1 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 0 0 1
Medical Laboratory Center, Huzhou Maternal and Child Health Hospital 1 0 0 0 0 0 0 1

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