ClinVar Miner

Variants studied for TH-deficient dopa-responsive dystonia

Included ClinVar conditions (1):
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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
83 129 362 547 48 4 1053

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TH 82 129 359 542 40 4 1039
INS, INS-IGF2, TH 1 0 0 2 5 0 8
INS, TH 0 0 1 3 3 0 4
AP2A2, BRSK2, CD151, CDHR5, CEND1, CHID1, CRACR2B, CTSD, DEAF1, DRD4, DUSP8, EPS8L2, GATD1, H19, IFITM10, IGF2, INS, INS-IGF2, IRF7, KRTAP5-1, KRTAP5-2, KRTAP5-3, KRTAP5-4, KRTAP5-5, KRTAP5-6, LSP1, MOB2, MRPL23, MUC2, MUC5AC, MUC5B, MUC6, PIDD1, PNPLA2, POLR2L, RPLP2, SCT, SLC25A22, SYT8, TALDO1, TH, TMEM80, TNNI2, TNNT3, TOLLIP, TSPAN4 0 0 1 0 0 0 1
ASCL2, BRSK2, C11orf21, CD81, CDKN1C, CTSD, DUSP8, H19, IFITM10, IGF2, INS, INS-IGF2, KCNQ1, KCNQ1DN, KCNQ1OT1, KRTAP5-1, KRTAP5-2, KRTAP5-3, KRTAP5-4, KRTAP5-5, KRTAP5-6, LSP1, MOB2, MRPL23, MUC5B, SYT8, TH, TNNI2, TNNT3, TOLLIP, TRPM5, TSPAN32, TSSC4 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 70 37 254 534 33 0 928
Natera, Inc. 7 5 91 34 18 0 155
Illumina Laboratory Services, Illumina 1 0 51 7 19 0 78
Baylor Genetics 12 47 6 0 0 0 65
Counsyl 2 29 28 1 0 0 60
Fulgent Genetics, Fulgent Genetics 2 3 23 3 1 0 32
Revvity Omics, Revvity 2 7 9 0 0 0 18
Genome-Nilou Lab 0 1 2 0 15 0 18
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 5 9 0 0 0 0 14
Myriad Genetics, Inc. 1 13 0 0 0 0 14
OMIM 11 0 0 0 0 0 11
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 3 4 0 7
Neuberg Centre For Genomic Medicine, NCGM 0 3 4 0 0 0 7
3billion 3 3 0 0 0 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 0 3 0 0 0 5
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 2 3 0 5
Mendelics 2 2 0 0 0 0 4
GeneReviews 0 0 0 0 0 3 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 Cellgenetics, GMDL Cellgenetics 2 1 0 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 1 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 1 0 0 0 0 2
Undiagnosed Diseases Network, NIH 0 0 2 0 0 0 2
Center for Molecular Medicine, Children’s Hospital of Fudan University 2 0 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 0 0 0 2
Molecular Genetics Lab, CHRU Brest 2 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
MGZ Medical Genetics Center 0 0 1 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
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 0 1 0 0 0 1
Pars Genome Lab 0 0 1 0 0 0 1
Department of Neurology, Xijing Hospital, Fourth Military Medical University 0 1 0 0 0 0 1

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