ClinVar Miner

Variants studied for Autosomal recessive DOPA responsive dystonia

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 not provided total
82 120 361 547 48 4 1044

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 81 120 358 542 40 4 1030
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: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 69 35 254 534 33 0 925
Natera, Inc. 7 5 91 34 18 0 155
Illumina Laboratory Services, Illumina 1 0 51 7 19 0 78
Counsyl 2 29 28 1 0 0 60
Baylor Genetics 8 38 5 0 0 0 51
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
Myriad Genetics, Inc. 1 13 0 0 0 0 14
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 5 8 0 0 0 0 13
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
3billion 3 3 0 0 0 0 6
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 2 4 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
Genetic Medical Diagnostic 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
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 1 1 0 0 0 0 2
Center for Molecular Medicine, Children’s Hospital of Fudan University 2 0 0 0 0 0 2
Molecular Genetics Lab, CHRU Brest 2 0 0 0 0 0 2
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
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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 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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