ClinVar Miner

Variants studied for Canavan disease

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 not provided total
95 107 89 168 4 7 398

Gene and significance breakdown #

Total genes and gene combinations: 6
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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
ASPA 11 3 2 0 0 0 16
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

Submitter and significance breakdown #

Total submitters: 36
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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 0 0 0 0 61
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
Illumina Laboratory Services, Illumina 4 2 9 1 0 0 16
OMIM 12 0 0 0 0 0 12
Fulgent Genetics, Fulgent Genetics 3 5 1 1 1 0 11
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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 2 0 0 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 3 1 0 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 0 0 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
Centogene AG - the Rare Disease Company 2 0 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 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
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
Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences 1 0 1 0 0 0 2
3billion 0 2 0 0 0 0 2
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
Juno Genomics, Hangzhou Juno Genomics, Inc 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
Institute of Human Genetics, University Hospital Muenster 1 0 0 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 1

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