ClinVar Miner

Variants studied for TH-deficient dopa-responsive dystonia

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
20 31 55 12 9 1 121

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 not provided total
TH 14 31 54 7 4 1 104
INS, INS-IGF2, TH 0 0 0 2 5 0 7
GCH1 6 0 0 0 0 0 6
INS, TH 0 0 1 3 0 0 4

Submitter and significance breakdown #

Total submitters: 11
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Counsyl 3 29 28 1 0 0 61
Illumina Clinical Services Laboratory,Illumina 1 0 25 8 8 0 42
OMIM 17 0 0 0 0 0 17
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 3 4 0 7
Fulgent Genetics 1 1 4 0 0 0 6
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 2 3 0 5
GeneReviews 2 0 0 0 1 0 3
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 3 0 0 3
SingHealth Duke-NUS Institute of Precision Medicine 1 2 0 0 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 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.