ClinVar Miner

Variants studied for Metachromatic leukodystrophy

Coded as:
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 other total
48 65 120 71 25 1 304

Gene and significance breakdown #

Total genes and gene combinations: 4
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign other total
ARSA 45 64 96 18 13 1 211
PSAP 0 0 24 30 1 0 55
CDH23, PSAP 0 0 0 23 11 0 34
ARSB 3 1 0 0 0 0 4

Submitter and significance breakdown #

Total submitters: 17
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign other total
Illumina Clinical Services Laboratory,Illumina 3 1 84 69 19 0 176
Counsyl 8 62 25 0 0 0 95
Invitae 10 1 10 2 3 1 27
GeneReviews 13 0 0 0 2 0 15
Integrated Genetics/Laboratory Corporation of America 11 3 0 0 0 0 14
OMIM 11 0 0 0 0 0 11
Fulgent Genetics 5 1 3 0 0 0 9
Neurometabolisches Labor,University hospital Tuebingen 7 0 0 0 1 0 8
Athena Diagnostics Inc 0 0 0 0 3 0 3
Genetic Services Laboratory, University of Chicago 3 0 0 0 0 0 3
Institute of Human Genetics,Klinikum rechts der Isar 2 0 0 0 0 0 2
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 0 1 0 0 0 2
SingHealth Duke-NUS Institute of Precision Medicine 0 0 1 0 1 0 2
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 1 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.