ClinVar Miner

Variants studied for triple-A syndrome

Included ClinVar conditions (2):
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
36 14 80 45 21 188

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
AAAS 24 12 50 7 8 97
ASIC4, GMPPA 11 2 26 37 13 85
AAAS, LOC130007973 0 0 3 1 0 4
AAAS, LOC130007972, LOC130007973, LOC130007974, MYG1 1 0 0 0 0 1
AAMP, ABCB6, ANKZF1, ARPC2, ASIC4, ATG9A, BCS1L, CATIP, CDK5R2, CFAP65, CHPF, CNOT9, CNPPD1, CRYBA2, CTDSP1, CXCR1, CXCR2, CYP27A1, DES, DNAJB2, DNPEP, FEV, GLB1L, GMPPA, GPBAR1, IHH, MIR26B, MIR375, NHEJ1, OBSL1, PLCD4, PNKD, PRKAG3, PTPRN, RESP18, RETREG2, RNF25, SLC11A1, SLC23A3, SPEG, STK16, STK36, TMBIM1, TMEM198, TTLL4, TUBA4A, USP37, VIL1, WNT10A, WNT6, ZFAND2B, ZNF142 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 3 0 25 33 12 73
Illumina Laboratory Services, Illumina 1 1 40 8 1 51
OMIM 15 0 0 0 0 15
Revvity Omics, Revvity 5 4 4 0 0 13
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 8 2 0 0 0 10
Fulgent Genetics, Fulgent Genetics 3 1 2 4 0 10
Genome-Nilou Lab 0 0 0 0 9 9
3billion 2 0 1 1 0 4
Neuberg Centre For Genomic Medicine, NCGM 2 0 2 0 0 4
MGZ Medical Genetics Center 0 2 1 0 0 3
Mendelics 3 0 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 2 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 1 0 0 2
Department of Pediatric Endocrinology and Inherited Metabolic Diseases, Children's Hospital of Fudan University 2 0 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 0 2 0 0 2
Baylor Genetics 0 0 1 0 0 1
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 0 0 0 1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 0 0 1 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 1 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 0 0 0 0 1
Children’s Hospital, Clinical research laboratory, Medizinische Fakultaet Carl Gustav Carus, Technische Universitaet Dresden 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 1
Genetics Unit, Juan Ramón Jiménez Hospital 0 1 0 0 0 1
Suma Genomics, Suma Genomics 1 0 0 0 0 1
Dr.Nikuei Genetic Center 0 0 0 0 1 1

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