ClinVar Miner

Variants in gene TH

See also:
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
17 37 116 19 18 1 184

Condition and significance breakdown #

Total conditions: 5
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Segawa syndrome, autosomal recessive 14 31 54 7 4 1 104
Dystonia 5 3 46 10 13 0 77
not provided 2 4 21 0 8 0 34
not specified 0 0 2 5 10 0 15
Inborn genetic diseases 1 0 3 0 0 0 4

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 5 3 46 10 13 0 77
Counsyl 3 29 28 1 0 0 61
Illumina Clinical Services Laboratory,Illumina 1 0 24 4 3 0 32
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 13 0 0 0 15
Athena Diagnostics Inc 0 0 4 0 8 0 12
OMIM 11 0 0 0 0 0 11
GeneDx 1 2 3 2 2 0 10
PreventionGenetics 0 0 0 3 6 0 9
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 5 0 3 0 9
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
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
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1

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