ClinVar Miner

Variants studied for myoclonus-dystonia syndrome

Included ClinVar conditions (3):
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 total
116 15 314 193 32 654

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CASD1, SGCE 99 15 231 130 22 483
KCTD17 3 0 40 45 9 96
SGCE 12 0 34 13 0 58
KCTD17, LOC130067340 0 0 7 5 1 13
ANKRD54, BAIAP2L2, C1QTNF6, C22orf23, CARD10, CBY1, CDC42EP1, CIMIP4, CSF2RB, CSNK1E, CYTH4, DDX17, DMC1, EIF3L, ELFN2, FAM227A, GALR3, GCAT, GGA1, GTPBP1, H1-0, IFT27, IL2RB, JOSD1, KCNJ4, KCTD17, KDELR3, LGALS1, LGALS2, MAFF, MFNG, MICALL1, MIR659, MPST, NCF4, NOL12, PDXP, PICK1, PLA2G6, POLR2F, PVALB, RAC2, SH3BP1, SLC16A8, SOX10, SSTR3, SUN2, TMEM184B, TMPRSS6, TOMM22, TRIOBP, TST 0 0 1 0 0 1
ASB4, BET1, CASD1, COL1A2, DYNC1I1, GNG11, GNGT1, PDK4, PEG10, PON1, PON2, PON3, PPP1R9A, SGCE, TFPI2 1 0 0 0 0 1
CASD1, COL1A2, LOC129998822, LOC129998823, LOC129998824, LOC129998825, SGCE 1 0 0 0 0 1
DRD2 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 86 7 283 190 23 589
Revvity Omics, Revvity 4 1 32 0 0 37
Illumina Laboratory Services, Illumina 1 0 10 4 10 25
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 11 4 0 0 0 15
OMIM 13 0 1 0 0 14
Baylor Genetics 2 1 4 0 0 7
MGZ Medical Genetics Center 3 0 1 0 0 4
3billion 1 0 3 0 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 0 0 0 0 3
Mendelics 3 0 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 1 0 0 3
Genome-Nilou Lab 0 0 0 0 3 3
Molecular Genetics, Royal Melbourne Hospital 0 0 3 0 0 3
Athena Diagnostics 0 0 0 0 2 2
Fulgent Genetics, Fulgent Genetics 0 0 2 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 2
Department of Neurology, Xijing Hospital, Fourth Military Medical University 0 0 2 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 1
Centre for Medical Genetics, Mumbai 0 0 0 0 1 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 1
Geriatric Neurology, Shaanxi Provincial People's Hospital 1 0 0 0 0 1
DASA 1 0 0 0 0 1
Université Mohamed IV des Sciences de la Santé, Hopital Cheikh Khalifa 1 0 0 0 0 1

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