ClinVar Miner

Variants in gene TH

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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
30 52 205 164 22 1 406

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Autosomal recessive DOPA responsive dystonia 28 47 157 123 17 1 327
Dystonia 4 4 63 33 17 0 121
not provided 2 4 32 25 9 0 71
not specified 0 0 2 5 10 0 15
Inborn genetic diseases 1 0 3 0 0 0 4
Dystonia 5 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 19 12 83 149 17 0 280
Natera, Inc. 2 0 59 19 14 0 94
Illumina Clinical Services Laboratory,Illumina 1 0 50 3 13 0 67
Counsyl 2 29 28 1 0 0 60
CeGaT Praxis fuer Humangenetik Tuebingen 1 2 23 5 0 0 31
Athena Diagnostics Inc 0 0 4 2 9 0 15
OMIM 11 0 0 0 0 0 11
GeneDx 1 2 3 2 2 0 10
PreventionGenetics, PreventionGenetics 0 0 0 3 6 0 9
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 1 0 5 0 3 0 9
Baylor Genetics 1 2 5 0 0 0 8
Fulgent Genetics,Fulgent Genetics 1 1 4 0 0 0 6
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 2 4 0 6
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 0 3 0 0 0 5
Ambry Genetics 1 0 3 0 0 0 4
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 1 3 0 4
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
Mendelics 0 2 0 0 0 0 2
Institute of Human Genetics, Klinikum rechts der Isar 1 1 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 1 0 0 0 0 2
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 2 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
NxGen MDx 0 1 0 0 0 0 1
Myriad Women's Health, Inc. 1 0 0 0 0 0 1

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