ClinVar Miner

Variants studied for inborn aminoacylase deficiency

Included ClinVar conditions (4):
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 not provided total
103 113 110 168 4 7 430

Gene and significance breakdown #

Total genes and gene combinations: 9
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ASPA, SPATA22 80 104 87 168 4 7 378
ABHD14A-ACY1, ACY1 8 4 21 0 0 0 30
ASPA 11 3 2 0 0 0 16
ACTB 0 1 0 0 0 0 1
ASPA, CAMKK1, CTNS, EMC6, HASPIN, ITGAE, NCBP3, P2RX1, P2RX5, SHPK, TAX1BP3, TRPV1, TRPV3 1 0 0 0 0 0 1
ASPA, CTNS, EMC6, HASPIN, ITGAE, LOC126862463, LOC126862464, LOC129390823, LOC129390824, LOC130059975, LOC130059976, LOC130059977, LOC130059978, LOC130059979, LOC130059980, LOC130059981, LOC130059982, LOC130059983, LOC130059984, LOC130059985, LOC130059986, P2RX5, P2RX5-TAX1BP3, SHPK, SPATA22, TAX1BP3, TRPV1, TRPV3 1 0 0 0 0 0 1
ASPA, CTNS, SHPK, TAX1BP3, TRPV1, TRPV3 1 0 0 0 0 0 1
ASPA, CTNS, SHPK, TRPV1, TRPV3 1 0 0 0 0 0 1
ZNF335 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 47
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 80 31 50 166 4 0 331
Baylor Genetics 21 40 6 0 0 0 67
Counsyl 0 35 16 0 0 0 51
Natera, Inc. 13 5 13 8 2 0 41
Genome-Nilou Lab 16 7 7 1 1 0 32
OMIM 19 0 0 0 0 0 19
Fulgent Genetics, Fulgent Genetics 4 6 4 1 1 0 16
Illumina Laboratory Services, Illumina 4 2 9 1 0 0 16
Myriad Genetics, Inc. 4 6 0 0 0 0 10
Revvity Omics, Revvity 2 4 1 0 0 0 7
GeneReviews 0 0 0 0 0 7 7
Neuberg Centre For Genomic Medicine, NCGM 3 1 2 0 0 0 6
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 3 0 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 1 0 0 0 0 4
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 3 0 0 0 4
Elsea Laboratory, Baylor College of Medicine 1 0 2 0 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 2 0 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 1 0 0 0 3
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 3 0 0 0 3
Institute of Human Genetics, University Hospital Muenster 1 0 2 0 0 0 3
Centogene AG - the Rare Disease Company 2 0 0 0 0 0 2
Mendelics 0 0 2 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 1 0 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 0 1 1 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 1 0 0 0 2
Medical Genetics Laboratory, Tarbiat Modares University 0 2 0 0 0 0 2
Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences 1 0 1 0 0 0 2
New York Genome Center 0 1 1 0 0 0 2
Lifecell International Pvt. Ltd 2 0 0 0 0 0 2
3billion 0 2 0 0 0 0 2
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 0 1
Clinical Genetics Laboratory, Christian Medical College, Vellore 1 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 1
Genomics For Life 0 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 1 0 0 0 0 1
MedGen Diagnostic Laboratory, MedGen Medical Centre 1 0 0 0 0 0 1
WangQJ Lab, Chinese People's Liberation Army General Hospital 0 0 1 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 0 1

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